12-52950358-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000224.3(KRT18):āc.448A>Gā(p.Ile150Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000178 in 1,613,652 control chromosomes in the GnomAD database, including 1 homozygotes. 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 not provided (no stars).
Frequency
Consequence
NM_000224.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.448A>G | p.Ile150Val | missense_variant | Exon 2 of 7 | ENST00000388835.4 | NP_000215.1 | |
KRT18 | NM_199187.2 | c.448A>G | p.Ile150Val | missense_variant | Exon 3 of 8 | NP_954657.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000960 AC: 146AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000258 AC: 65AN: 251472Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135912
GnomAD4 exome AF: 0.0000931 AC: 136AN: 1461384Hom.: 1 Cov.: 30 AF XY: 0.0000770 AC XY: 56AN XY: 727046
GnomAD4 genome AF: 0.000998 AC: 152AN: 152268Hom.: 0 Cov.: 32 AF XY: 0.00101 AC XY: 75AN XY: 74472
ClinVar
Submissions by phenotype
not provided Other:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at