6-32396178-T-C
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001304561.2(BTNL2):c.939A>G(p.Val313Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.429 in 1,612,670 control chromosomes in the GnomAD database, including 150,036 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001304561.2 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.396 AC: 60100AN: 151884Hom.: 11991 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.415 AC: 102325AN: 246668 AF XY: 0.413 show subpopulations
GnomAD4 exome AF: 0.432 AC: 631154AN: 1460666Hom.: 138045 Cov.: 60 AF XY: 0.429 AC XY: 311836AN XY: 726656 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.396 AC: 60119AN: 152004Hom.: 11991 Cov.: 31 AF XY: 0.397 AC XY: 29479AN XY: 74290 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at