12-52950806-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_000224.3(KRT18):c.557G>A(p.Arg186His) variant causes a missense change. The variant allele was found at a frequency of 0.0000174 in 1,610,444 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000224.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRT18 | NM_000224.3 | c.557G>A | p.Arg186His | missense_variant | Exon 3 of 7 | ENST00000388835.4 | NP_000215.1 | |
KRT18 | NM_199187.2 | c.557G>A | p.Arg186His | missense_variant | Exon 4 of 8 | NP_954657.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152096Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000242 AC: 6AN: 248314Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 134200
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1458348Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 725334
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152096Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74274
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.557G>A (p.R186H) alteration is located in exon 3 (coding exon 3) of the KRT18 gene. This alteration results from a G to A substitution at nucleotide position 557, causing the arginine (R) at amino acid position 186 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at