17-41307989-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001146182.2(KRTAP16-1):c.1265G>A(p.Arg422His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000593 in 1,550,462 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001146182.2 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: 0.0000395 AC: 6AN: 152036Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000540 AC: 8AN: 148186Hom.: 0 AF XY: 0.0000251 AC XY: 2AN XY: 79806
GnomAD4 exome AF: 0.0000615 AC: 86AN: 1398308Hom.: 0 Cov.: 38 AF XY: 0.0000594 AC XY: 41AN XY: 689666
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1265G>A (p.R422H) alteration is located in exon 1 (coding exon 1) of the KRTAP16-1 gene. This alteration results from a G to A substitution at nucleotide position 1265, causing the arginine (R) at amino acid position 422 to be replaced by a histidine (H). 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