12-52949447-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000224.3(KRT18):c.274G>T(p.Ala92Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000014 in 1,432,758 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A92P) has been classified as Likely benign.
Frequency
Consequence
NM_000224.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRT18 | NM_000224.3 | c.274G>T | p.Ala92Ser | missense_variant | Exon 1 of 7 | ENST00000388835.4 | NP_000215.1 | |
KRT18 | NM_199187.2 | c.274G>T | p.Ala92Ser | missense_variant | Exon 2 of 8 | NP_954657.1 | ||
KRT8 | NM_001256293.2 | c.-47+268C>A | intron_variant | Intron 1 of 8 | NP_001243222.1 | |||
KRT8 | NR_045962.2 | n.405+9C>A | intron_variant | Intron 1 of 8 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 38
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1432758Hom.: 0 Cov.: 36 AF XY: 0.00000140 AC XY: 1AN XY: 712900
GnomAD4 genome Cov.: 38
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at