6-31765945-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_025258.3(VWA7):c.2437G>A(p.Ala813Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000117 in 1,612,992 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025258.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
VWA7 | NM_025258.3 | c.2437G>A | p.Ala813Thr | missense_variant | 16/17 | ENST00000375688.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VWA7 | ENST00000375688.5 | c.2437G>A | p.Ala813Thr | missense_variant | 16/17 | 5 | NM_025258.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000813 AC: 20AN: 246128Hom.: 0 AF XY: 0.000112 AC XY: 15AN XY: 134202
GnomAD4 exome AF: 0.000122 AC: 178AN: 1460764Hom.: 0 Cov.: 33 AF XY: 0.000117 AC XY: 85AN XY: 726698
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 08, 2022 | The c.2437G>A (p.A813T) alteration is located in exon 16 (coding exon 15) of the VWA7 gene. This alteration results from a G to A substitution at nucleotide position 2437, causing the alanine (A) at amino acid position 813 to be replaced by a threonine (T). 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