17-41097583-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_031960.3(KRTAP4-8):c.502G>T(p.Ala168Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A168T) has been classified as Benign.
Frequency
Consequence
NM_031960.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRTAP4-8 | NM_031960.3 | c.502G>T | p.Ala168Ser | missense_variant | 1/1 | ENST00000333822.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRTAP4-8 | ENST00000333822.5 | c.502G>T | p.Ala168Ser | missense_variant | 1/1 | NM_031960.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD3 exomes AF: 0.0000133 AC: 2AN: 150016Hom.: 1 AF XY: 0.00 AC XY: 0AN XY: 78826
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 7.13e-7 AC: 1AN: 1401564Hom.: 0 Cov.: 96 AF XY: 0.00 AC XY: 0AN XY: 692524
GnomAD4 genome Cov.: 28
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at