9-101371179-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP5
The NM_001701.4(BAAT):āc.226A>Gā(p.Met76Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,614,160 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M76T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001701.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BAAT | NM_001701.4 | c.226A>G | p.Met76Val | missense_variant | 2/4 | ENST00000259407.7 | |
BAAT | NM_001127610.2 | c.226A>G | p.Met76Val | missense_variant | 2/4 | ||
BAAT | NM_001374715.1 | c.226A>G | p.Met76Val | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BAAT | ENST00000259407.7 | c.226A>G | p.Met76Val | missense_variant | 2/4 | 1 | NM_001701.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000177 AC: 27AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250828Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135532
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461864Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727232
GnomAD4 genome AF: 0.000177 AC: 27AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74472
ClinVar
Submissions by phenotype
Bile acid conjugation defect 1 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 2003 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at