17-41117879-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033059.4(KRTAP4-11):c.437G>A(p.Arg146His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000434 in 1,611,392 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_033059.4 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: 0.0000329 AC: 5AN: 151968Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000771 AC: 19AN: 246440Hom.: 0 AF XY: 0.0000895 AC XY: 12AN XY: 134124
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1459424Hom.: 0 Cov.: 205 AF XY: 0.0000372 AC XY: 27AN XY: 725982
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151968Hom.: 0 Cov.: 34 AF XY: 0.0000404 AC XY: 3AN XY: 74246
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.437G>A (p.R146H) alteration is located in exon 1 (coding exon 1) of the KRTAP4-11 gene. This alteration results from a G to A substitution at nucleotide position 437, causing the arginine (R) at amino acid position 146 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