8-119732159-C-T
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBA1
The NM_003184.4(TAF2):c.3365G>A(p.Ser1122Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0691 in 1,613,680 control chromosomes in the GnomAD database, including 5,010 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003184.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAF2 | NM_003184.4 | c.3365G>A | p.Ser1122Asn | missense_variant | 26/26 | ENST00000378164.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAF2 | ENST00000378164.7 | c.3365G>A | p.Ser1122Asn | missense_variant | 26/26 | 1 | NM_003184.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0976 AC: 14838AN: 152078Hom.: 1089 Cov.: 33
GnomAD3 exomes AF: 0.0619 AC: 15569AN: 251316Hom.: 797 AF XY: 0.0590 AC XY: 8007AN XY: 135820
GnomAD4 exome AF: 0.0661 AC: 96625AN: 1461484Hom.: 3921 Cov.: 32 AF XY: 0.0650 AC XY: 47251AN XY: 727076
GnomAD4 genome AF: 0.0976 AC: 14850AN: 152196Hom.: 1089 Cov.: 33 AF XY: 0.0943 AC XY: 7021AN XY: 74422
ClinVar
Submissions by phenotype
TAF2-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Nov 20, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at