17-41065571-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_033184.4(KRTAP2-4):c.275G>A(p.Cys92Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,460,650 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033184.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000709 AC: 1AN: 141060Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000758 AC: 10AN: 1319590Hom.: 0 Cov.: 31 AF XY: 0.0000123 AC XY: 8AN XY: 651058
GnomAD4 genome AF: 0.00000709 AC: 1AN: 141060Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 68946
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.275G>A (p.C92Y) alteration is located in exon 1 (coding exon 1) of the KRTAP2-4 gene. This alteration results from a G to A substitution at nucleotide position 275, causing the cysteine (C) at amino acid position 92 to be replaced by a tyrosine (Y). 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