rs267607481
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PM5PP3_ModerateBS1
The NM_001320198.2(KRT86):c.353C>T(p.Ala118Val) variant causes a missense change involving the alteration of a conserved nucleotide. In-silico tool predicts a pathogenic 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. A118E) has been classified as Pathogenic.
Frequency
Consequence
NM_001320198.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRT86 | NM_001320198.2 | c.353C>T | p.Ala118Val | missense_variant | 3/11 | ENST00000423955.7 | |
KRT86 | XM_005268866.5 | c.584C>T | p.Ala195Val | missense_variant | 3/11 | ||
KRT81 | XM_047428838.1 | c.-10514G>A | 5_prime_UTR_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT86 | ENST00000423955.7 | c.353C>T | p.Ala118Val | missense_variant | 3/11 | 2 | NM_001320198.2 | P1 | |
KRT86 | ENST00000293525.5 | c.353C>T | p.Ala118Val | missense_variant | 1/9 | 1 | P1 | ||
ENST00000664686.1 | n.252-625G>A | intron_variant, non_coding_transcript_variant | |||||||
KRT86 | ENST00000553310.6 | c.353C>T | p.Ala118Val | missense_variant | 2/3 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000284 AC: 2AN: 70464Hom.: 0 Cov.: 9
GnomAD3 exomes AF: 0.0000640 AC: 4AN: 62524Hom.: 0 AF XY: 0.0000633 AC XY: 2AN XY: 31606
GnomAD4 exome AF: 0.0000454 AC: 32AN: 704316Hom.: 0 Cov.: 9 AF XY: 0.0000474 AC XY: 17AN XY: 358438
GnomAD4 genome ? AF: 0.0000284 AC: 2AN: 70480Hom.: 0 Cov.: 9 AF XY: 0.0000649 AC XY: 2AN XY: 30812
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at