rs410562
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_173086.5(KRT6C):c.1503C>T(p.Ser501Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.341 in 1,613,266 control chromosomes in the GnomAD database, including 99,621 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_173086.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.268 AC: 40729AN: 151984Hom.: 6894 Cov.: 32
GnomAD3 exomes AF: 0.320 AC: 79853AN: 249798Hom.: 13927 AF XY: 0.321 AC XY: 43313AN XY: 135118
GnomAD4 exome AF: 0.349 AC: 509627AN: 1461164Hom.: 92723 Cov.: 82 AF XY: 0.346 AC XY: 251468AN XY: 726882
GnomAD4 genome AF: 0.268 AC: 40728AN: 152102Hom.: 6898 Cov.: 32 AF XY: 0.266 AC XY: 19775AN XY: 74340
ClinVar
Submissions by phenotype
not provided Benign:2
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KRT6C-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at