12-52396906-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_033033.4(KRT82):c.1045G>A(p.Glu349Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000316 in 1,614,172 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152228Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251350Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135860
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461826Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 727212
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152346Hom.: 0 Cov.: 31 AF XY: 0.0000268 AC XY: 2AN XY: 74506
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1045G>A (p.E349K) alteration is located in exon 6 (coding exon 6) of the KRT82 gene. This alteration results from a G to A substitution at nucleotide position 1045, causing the glutamic acid (E) at amino acid position 349 to be replaced by a lysine (K). 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