12-52395768-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_033033.4(KRT82):c.1312G>A(p.Val438Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000113 in 1,553,814 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033033.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000602 AC: 12AN: 199296Hom.: 0 AF XY: 0.0000470 AC XY: 5AN XY: 106446
GnomAD4 exome AF: 0.000108 AC: 151AN: 1401668Hom.: 0 Cov.: 32 AF XY: 0.0000982 AC XY: 68AN XY: 692814
GnomAD4 genome AF: 0.000158 AC: 24AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1312G>A (p.V438M) alteration is located in exon 8 (coding exon 8) of the KRT82 gene. This alteration results from a G to A substitution at nucleotide position 1312, causing the valine (V) at amino acid position 438 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at