chr12-52447375-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_005555.4(KRT6B):c.1510G>A(p.Gly504Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000731 in 1,613,964 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_005555.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000283 AC: 43AN: 152172Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000112 AC: 28AN: 251030Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135722
GnomAD4 exome AF: 0.0000513 AC: 75AN: 1461674Hom.: 0 Cov.: 30 AF XY: 0.0000413 AC XY: 30AN XY: 727130
GnomAD4 genome AF: 0.000282 AC: 43AN: 152290Hom.: 0 Cov.: 33 AF XY: 0.000295 AC XY: 22AN XY: 74468
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1510G>A (p.G504S) alteration is located in exon 9 (coding exon 9) of the KRT6B gene. This alteration results from a G to A substitution at nucleotide position 1510, causing the glycine (G) at amino acid position 504 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at