12-52572644-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_175053.4(KRT74):c.495C>G(p.Asn165Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0619 in 1,613,830 control chromosomes in the GnomAD database, including 4,760 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_175053.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0501 AC: 7625AN: 152124Hom.: 411 Cov.: 32
GnomAD3 exomes AF: 0.0698 AC: 17561AN: 251432Hom.: 1218 AF XY: 0.0716 AC XY: 9727AN XY: 135902
GnomAD4 exome AF: 0.0631 AC: 92269AN: 1461588Hom.: 4349 Cov.: 34 AF XY: 0.0638 AC XY: 46392AN XY: 727116
GnomAD4 genome AF: 0.0500 AC: 7619AN: 152242Hom.: 411 Cov.: 32 AF XY: 0.0508 AC XY: 3785AN XY: 74438
ClinVar
Submissions by phenotype
not provided Benign:3
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at