rs76301931
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000224.3(KRT18):āc.11C>Gā(p.Thr4Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000837 in 1,194,910 control chromosomes in the GnomAD database, with no homozygous occurrence. 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.
Frequency
Consequence
NM_000224.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRT18 | NM_000224.3 | c.11C>G | p.Thr4Ser | missense_variant | Exon 1 of 7 | ENST00000388835.4 | NP_000215.1 | |
KRT18 | NM_199187.2 | c.11C>G | p.Thr4Ser | missense_variant | Exon 2 of 8 | NP_954657.1 | ||
KRT8 | NM_001256293.2 | c.-47+531G>C | intron_variant | Intron 1 of 8 | NP_001243222.1 | |||
KRT8 | NR_045962.2 | n.405+272G>C | intron_variant | Intron 1 of 8 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 25
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 246676Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134238
GnomAD4 exome AF: 8.37e-7 AC: 1AN: 1194910Hom.: 0 Cov.: 35 AF XY: 0.00000168 AC XY: 1AN XY: 595514
GnomAD4 genome Cov.: 25
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at