12-52447395-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_005555.4(KRT6B):āc.1490A>Gā(p.Tyr497Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0486 in 1,613,936 control chromosomes in the GnomAD database, including 2,128 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_005555.4 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: 0.0390 AC: 5937AN: 152100Hom.: 144 Cov.: 33
GnomAD3 exomes AF: 0.0429 AC: 10768AN: 251184Hom.: 297 AF XY: 0.0452 AC XY: 6139AN XY: 135782
GnomAD4 exome AF: 0.0496 AC: 72462AN: 1461718Hom.: 1985 Cov.: 31 AF XY: 0.0503 AC XY: 36588AN XY: 727142
GnomAD4 genome AF: 0.0390 AC: 5930AN: 152218Hom.: 143 Cov.: 33 AF XY: 0.0390 AC XY: 2906AN XY: 74426
ClinVar
Submissions by phenotype
not provided Benign:2
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KRT6B-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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at