NM_005555.4:c.1495G>A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_005555.4(KRT6B):c.1495G>A(p.Gly499Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0309 in 1,614,014 control chromosomes in the GnomAD database, including 943 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
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: 0.0246 AC: 3748AN: 152174Hom.: 65 Cov.: 33
GnomAD3 exomes AF: 0.0259 AC: 6493AN: 251172Hom.: 121 AF XY: 0.0261 AC XY: 3538AN XY: 135790
GnomAD4 exome AF: 0.0315 AC: 46089AN: 1461722Hom.: 879 Cov.: 31 AF XY: 0.0313 AC XY: 22777AN XY: 727150
GnomAD4 genome AF: 0.0246 AC: 3744AN: 152292Hom.: 64 Cov.: 33 AF XY: 0.0229 AC XY: 1706AN XY: 74460
ClinVar
Submissions by phenotype
Pachyonychia congenita 4 Pathogenic:1Benign:1
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not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at