13-91448908-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004466.6(GPC5):c.311C>T(p.Ala104Val) variant causes a missense change. The variant allele was found at a frequency of 0.00014 in 1,612,484 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004466.6 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: 0.0000855 AC: 13AN: 152064Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000639 AC: 16AN: 250214Hom.: 0 AF XY: 0.0000887 AC XY: 12AN XY: 135216
GnomAD4 exome AF: 0.000145 AC: 212AN: 1460420Hom.: 0 Cov.: 30 AF XY: 0.000129 AC XY: 94AN XY: 726442
GnomAD4 genome AF: 0.0000855 AC: 13AN: 152064Hom.: 1 Cov.: 32 AF XY: 0.0000943 AC XY: 7AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.311C>T (p.A104V) alteration is located in exon 2 (coding exon 2) of the GPC5 gene. This alteration results from a C to T substitution at nucleotide position 311, causing the alanine (A) at amino acid position 104 to be replaced by a valine (V). 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