NM_000224.3:c.274G>A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000224.3(KRT18):c.274G>A(p.Ala92Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. 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. 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRT18 | NM_000224.3 | c.274G>A | p.Ala92Thr | missense_variant | Exon 1 of 7 | ENST00000388835.4 | NP_000215.1 | |
KRT18 | NM_199187.2 | c.274G>A | p.Ala92Thr | missense_variant | Exon 2 of 8 | NP_954657.1 | ||
KRT8 | NM_001256293.2 | c.-47+268C>T | intron_variant | Intron 1 of 8 | NP_001243222.1 | |||
KRT8 | NR_045962.2 | n.405+9C>T | intron_variant | Intron 1 of 8 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 38
GnomAD4 exome Cov.: 36
GnomAD4 genome Cov.: 38
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at