17-41238213-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031963.3(KRTAP9-8):c.162C>G(p.Asn54Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000438 in 1,607,930 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031963.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000229 AC: 34AN: 148304Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.000200 AC: 50AN: 250590Hom.: 0 AF XY: 0.000184 AC XY: 25AN XY: 135534
GnomAD4 exome AF: 0.000460 AC: 671AN: 1459626Hom.: 0 Cov.: 31 AF XY: 0.000443 AC XY: 322AN XY: 726216
GnomAD4 genome AF: 0.000229 AC: 34AN: 148304Hom.: 1 Cov.: 31 AF XY: 0.000166 AC XY: 12AN XY: 72474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.162C>G (p.N54K) alteration is located in exon 1 (coding exon 1) of the KRTAP9-8 gene. This alteration results from a C to G substitution at nucleotide position 162, causing the asparagine (N) at amino acid position 54 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