chr12-52514962-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000424.4(KRT5):c.1753C>T(p.Arg585Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,613,542 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R585Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_000424.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRT5 | NM_000424.4 | c.1753C>T | p.Arg585Trp | missense_variant | 9/9 | ENST00000252242.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT5 | ENST00000252242.9 | c.1753C>T | p.Arg585Trp | missense_variant | 9/9 | 1 | NM_000424.4 | P1 | |
KRT5 | ENST00000552952.1 | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 152082Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.0000718 AC: 18AN: 250522Hom.: 1 AF XY: 0.0000590 AC XY: 8AN XY: 135628
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461460Hom.: 0 Cov.: 30 AF XY: 0.0000179 AC XY: 13AN XY: 727034
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 152082Hom.: 1 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74280
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 16, 2022 | The c.1753C>T (p.R585W) alteration is located in exon 9 (coding exon 9) of the KRT5 gene. This alteration results from a C to T substitution at nucleotide position 1753, causing the arginine (R) at amino acid position 585 to be replaced by a tryptophan (W). 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