chr11-71527488-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001012503.2(KRTAP5-7):c.188C>T(p.Ser63Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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_001012503.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD3 exomes AF: 0.0000485 AC: 12AN: 247342Hom.: 0 AF XY: 0.0000671 AC XY: 9AN XY: 134034
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000207 AC: 29AN: 1398184Hom.: 0 Cov.: 142 AF XY: 0.0000273 AC XY: 19AN XY: 695968
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.188C>T (p.S63F) alteration is located in exon 1 (coding exon 1) of the KRTAP5-7 gene. This alteration results from a C to T substitution at nucleotide position 188, causing the serine (S) at amino acid position 63 to be replaced by a phenylalanine (F). 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