3-184230912-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001390846.1(VWA5B2):c.305C>T(p.Ala102Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000739 in 1,218,482 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_001390846.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
VWA5B2 | NM_001390846.1 | c.305C>T | p.Ala102Val | missense_variant | 3/20 | ENST00000691901.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VWA5B2 | ENST00000691901.1 | c.305C>T | p.Ala102Val | missense_variant | 3/20 | NM_001390846.1 | P1 | ||
VWA5B2 | ENST00000426955.6 | c.305C>T | p.Ala102Val | missense_variant | 2/19 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152006Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000563 AC: 6AN: 1066476Hom.: 0 Cov.: 32 AF XY: 0.00000990 AC XY: 5AN XY: 504912
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152006Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74238
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 29, 2021 | The c.305C>T (p.A102V) alteration is located in exon 2 (coding exon 2) of the VWA5B2 gene. This alteration results from a C to T substitution at nucleotide position 305, causing the alanine (A) at amino acid position 102 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