rs61755096
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001701.4(BAAT):c.911T>C(p.Val304Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0269 in 1,614,172 control chromosomes in the GnomAD database, including 793 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001701.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BAAT | NM_001701.4 | c.911T>C | p.Val304Ala | missense_variant | 4/4 | ENST00000259407.7 | |
BAAT | NM_001127610.2 | c.911T>C | p.Val304Ala | missense_variant | 4/4 | ||
BAAT | NM_001374715.1 | c.911T>C | p.Val304Ala | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BAAT | ENST00000259407.7 | c.911T>C | p.Val304Ala | missense_variant | 4/4 | 1 | NM_001701.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0193 AC: 2931AN: 152190Hom.: 48 Cov.: 32
GnomAD3 exomes AF: 0.0254 AC: 6368AN: 251134Hom.: 129 AF XY: 0.0275 AC XY: 3733AN XY: 135710
GnomAD4 exome AF: 0.0277 AC: 40526AN: 1461864Hom.: 745 Cov.: 33 AF XY: 0.0286 AC XY: 20833AN XY: 727230
GnomAD4 genome ? AF: 0.0192 AC: 2928AN: 152308Hom.: 48 Cov.: 32 AF XY: 0.0185 AC XY: 1375AN XY: 74472
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - |
Hypercholanemia, familial 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 12, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 24, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at