chr12-52949379-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000224.3(KRT18):āc.206G>Cā(p.Gly69Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000559 in 1,610,924 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. Variant has been reported in ClinVar as Uncertain significance (ā ā ).
Frequency
Consequence
NM_000224.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRT18 | NM_000224.3 | c.206G>C | p.Gly69Ala | missense_variant | Exon 1 of 7 | ENST00000388835.4 | NP_000215.1 | |
KRT18 | NM_199187.2 | c.206G>C | p.Gly69Ala | missense_variant | Exon 2 of 8 | NP_954657.1 | ||
KRT8 | NM_001256293.2 | c.-47+336C>G | intron_variant | Intron 1 of 8 | NP_001243222.1 | |||
KRT8 | NR_045962.2 | n.405+77C>G | intron_variant | Intron 1 of 8 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000198 AC: 30AN: 151862Hom.: 0 Cov.: 40
GnomAD3 exomes AF: 0.0000447 AC: 11AN: 245908Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134234
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1458956Hom.: 0 Cov.: 36 AF XY: 0.0000317 AC XY: 23AN XY: 725842
GnomAD4 genome AF: 0.000204 AC: 31AN: 151968Hom.: 0 Cov.: 40 AF XY: 0.000202 AC XY: 15AN XY: 74304
ClinVar
Submissions by phenotype
Cirrhosis, familial Uncertain:1
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. -
not provided Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at