14-76762892-C-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_014909.5(VASH1):c.71C>A(p.Ala24Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00055 in 1,556,930 control chromosomes in the GnomAD database, including 2 homozygotes. 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_014909.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000237 AC: 36AN: 152180Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000231 AC: 44AN: 190368Hom.: 0 AF XY: 0.000174 AC XY: 18AN XY: 103290
GnomAD4 exome AF: 0.000584 AC: 821AN: 1404750Hom.: 2 Cov.: 30 AF XY: 0.000581 AC XY: 403AN XY: 694162
GnomAD4 genome AF: 0.000237 AC: 36AN: 152180Hom.: 0 Cov.: 33 AF XY: 0.000215 AC XY: 16AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.71C>A (p.A24D) alteration is located in exon 1 (coding exon 1) of the VASH1 gene. This alteration results from a C to A substitution at nucleotide position 71, causing the alanine (A) at amino acid position 24 to be replaced by an aspartic acid (D). 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