12-52949280-A-C
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM1PP3BS2
The NM_000224.3(KRT18):āc.107A>Cā(p.Tyr36Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000199 in 1,458,444 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000224.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRT18 | NM_000224.3 | c.107A>C | p.Tyr36Ser | missense_variant | Exon 1 of 7 | ENST00000388835.4 | NP_000215.1 | |
KRT18 | NM_199187.2 | c.107A>C | p.Tyr36Ser | missense_variant | Exon 2 of 8 | NP_954657.1 | ||
KRT8 | NM_001256293.2 | c.-47+435T>G | intron_variant | Intron 1 of 8 | NP_001243222.1 | |||
KRT8 | NR_045962.2 | n.405+176T>G | intron_variant | Intron 1 of 8 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 40
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243828Hom.: 0 AF XY: 0.00000750 AC XY: 1AN XY: 133264
GnomAD4 exome AF: 0.0000199 AC: 29AN: 1458444Hom.: 0 Cov.: 36 AF XY: 0.0000207 AC XY: 15AN XY: 725544
GnomAD4 genome Cov.: 40
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.107A>C (p.Y36S) alteration is located in exon 1 (coding exon 1) of the KRT18 gene. This alteration results from a A to C substitution at nucleotide position 107, causing the tyrosine (Y) at amino acid position 36 to be replaced by a serine (S). 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