11-71548917-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005553.4(KRTAP5-9):c.260G>A(p.Cys87Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,613,372 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005553.4 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: 0.000118 AC: 18AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251468Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135922
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461030Hom.: 0 Cov.: 31 AF XY: 0.00000826 AC XY: 6AN XY: 726822
GnomAD4 genome AF: 0.000118 AC: 18AN: 152342Hom.: 0 Cov.: 33 AF XY: 0.0000805 AC XY: 6AN XY: 74498
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.260G>A (p.C87Y) alteration is located in exon 1 (coding exon 1) of the KRTAP5-9 gene. This alteration results from a G to A substitution at nucleotide position 260, causing the cysteine (C) at amino acid position 87 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