17-41178055-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033062.4(KRTAP4-2):c.110G>A(p.Arg37His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000874 in 1,613,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033062.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 151968Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000802 AC: 20AN: 249378Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135374
GnomAD4 exome AF: 0.0000759 AC: 111AN: 1461522Hom.: 0 Cov.: 176 AF XY: 0.0000619 AC XY: 45AN XY: 727074
GnomAD4 genome AF: 0.000197 AC: 30AN: 152086Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.110G>A (p.R37H) alteration is located in exon 1 (coding exon 1) of the KRTAP4-2 gene. This alteration results from a G to A substitution at nucleotide position 110, causing the arginine (R) at amino acid position 37 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