chr10-42791631-C-T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 1P and 16B. PP3BP4_StrongBP6_Very_StrongBS2
The NM_014753.4(BMS1):c.641C>T(p.Ala214Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000761 in 1,445,700 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_014753.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 190AN: 151148Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome AF: 0.000761 AC: 1100AN: 1445700Hom.: 0 Cov.: 30 AF XY: 0.000835 AC XY: 600AN XY: 718662
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00126 AC: 190AN: 151264Hom.: 0 Cov.: 32 AF XY: 0.00131 AC XY: 97AN XY: 73982
ClinVar
Submissions by phenotype
not provided Benign:2
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BMS1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at