16-84179828-A-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001243156.2(TAF1C):c.1645T>A(p.Leu549Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.399 in 1,606,516 control chromosomes in the GnomAD database, including 130,400 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001243156.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.348 AC: 52821AN: 151772Hom.: 9930 Cov.: 32
GnomAD3 exomes AF: 0.397 AC: 93925AN: 236712Hom.: 19272 AF XY: 0.393 AC XY: 51298AN XY: 130492
GnomAD4 exome AF: 0.404 AC: 587698AN: 1454626Hom.: 120455 Cov.: 84 AF XY: 0.401 AC XY: 289940AN XY: 722664
GnomAD4 genome AF: 0.348 AC: 52859AN: 151890Hom.: 9945 Cov.: 32 AF XY: 0.349 AC XY: 25939AN XY: 74230
ClinVar
Submissions by phenotype
not specified Benign:1
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 -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at