chr20-62006590-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_003185.4(TAF4):c.2143A>G(p.Ser715Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00183 in 1,597,540 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_003185.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAF4 | NM_003185.4 | c.2143A>G | p.Ser715Gly | missense_variant | 7/15 | ENST00000252996.9 | |
TAF4 | XM_047440429.1 | c.1027A>G | p.Ser343Gly | missense_variant | 8/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAF4 | ENST00000252996.9 | c.2143A>G | p.Ser715Gly | missense_variant | 7/15 | 1 | NM_003185.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00210 AC: 319AN: 151884Hom.: 4 Cov.: 33
GnomAD3 exomes AF: 0.00239 AC: 538AN: 225330Hom.: 2 AF XY: 0.00235 AC XY: 290AN XY: 123304
GnomAD4 exome AF: 0.00180 AC: 2604AN: 1445538Hom.: 16 Cov.: 30 AF XY: 0.00176 AC XY: 1266AN XY: 718544
GnomAD4 genome ? AF: 0.00210 AC: 319AN: 152002Hom.: 4 Cov.: 33 AF XY: 0.00254 AC XY: 189AN XY: 74282
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2023 | TAF4: BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at