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benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4159, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To determine whether the single-nucleotide variant (SNV) is **benign** or **pathogenic**, we perform a step-by-step genomic analysis of the reference and alternate DNA sequences provided. --- ### Step 1: Identify the Variant and Its Genomic Position By aligning the provided **Reference DNA sequence** and **Alternate...
benign
true
gemini-3.6-flash
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7,393
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benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 7663, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To determine whether the single-nucleotide variant (SNV) is **benign** or **pathogenic**, we analyze its genomic context and potential impact on gene function and protein expression. --- ### Step 1: Identify the Location of the Variant 1. **Variant Position**: The reference and alternate sequences differ at position ...
benign
true
gemini-3.6-flash
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benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4841, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To determine whether the single-nucleotide variant (SNV) is **benign** or **pathogenic**, we perform a step-by-step analysis of the sequence context, variant location, and potential functional impact. --- ### Step 1: Variant Identification and Localization 1. **Sequence Comparison**: Comparing the provided `Reference...
benign
true
gemini-3.6-flash
stop
7,331
550
17,153
25,034
00000/405
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4167, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To classify the given human single-nucleotide variant (SNV), we perform a step-by-step genomic and bioinformatic analysis of the sequence provided. --- ### Step 1: Sequence Alignment and Gene Identification 1. **Gene Identification:** By translating the downstream coding sequence from the splice acceptor site `CA...
benign
true
gemini-3.6-flash
stop
7,241
761
25,019
33,021
00000/559
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 1723, using 1-based indexing relative to the sequences shown. At this position, the reference allele T...
To determine the pathogenicity of the given single-nucleotide variant (SNV), we analyze the genomic context, position, reading frames, and functional impact on the corresponding human gene. --- ### Step 1: Sequence Alignment & Variant Identification Comparing the reference and alternate DNA sequences provided: * **P...
benign
true
gemini-3.6-flash
stop
7,193
653
43,060
50,906
00000/81
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 6023, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To classify the human single-nucleotide variant (SNV) as either **benign** or **pathogenic**, we perform a sequence alignment, context analysis, functional impact assessment, and application of standard clinical genetics criteria (such as ACMG/AMP variant interpretation guidelines). --- ### Step 1: Sequence Compariso...
benign
true
gemini-3.6-flash
stop
7,323
774
30,012
38,109
00000/9
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4177, using 1-based indexing relative to the sequences shown. At this position, the reference allele A...
To classify the given single-nucleotide variant (SNV) as either **benign** or **pathogenic**, we perform a step-by-step genomic sequence analysis: --- ### Step 1: Locate and Extract the Variant By comparing the provided reference and alternate DNA sequences: * **Reference allele at position 4177:** `A` * **Alternate ...
benign
true
gemini-3.6-flash
stop
7,305
718
32,382
40,405
00000/920
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 1309, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To determine whether the single-nucleotide variant (SNV) is **benign** or **pathogenic**, we perform a step-by-step analysis of the sequence context, codon change, and functional impact relative to standard variant interpretation guidelines (ACMG/AMP criteria). --- ### Step 1: Identification of the Variant - **Locati...
benign
true
gemini-3.6-flash
stop
7,473
816
42,860
51,149
00000/960
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 5152, using 1-based indexing relative to the sequences shown. At this position, the reference allele T...
To classify the given human single-nucleotide variant (SNV), we perform a step-by-step genomic sequence analysis, mapping, and functional evaluation: ### 1. Gene and Sequence Identification By examining the provided reference DNA sequence, we identify distinct exon-intron structures. Specifically, around position 4100...
benign
true
gemini-3.6-flash
stop
7,341
630
37,631
45,602
00000/986
benign
"Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the va(...TRUNCATED)
"To determine whether the given single-nucleotide variant (SNV) is **benign** or **pathogenic**, we (...TRUNCATED)
benign
true
gemini-3.6-flash
stop
7,335
724
17,449
25,508
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