7-12337203-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001135924.3(VWDE):c.4436G>T(p.Gly1479Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000286 in 1,399,642 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001135924.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VWDE | NM_001135924.3 | c.4436G>T | p.Gly1479Val | missense_variant | Exon 25 of 29 | ENST00000275358.8 | NP_001129396.1 | |
VWDE | NM_001346972.2 | c.4091G>T | p.Gly1364Val | missense_variant | Exon 23 of 27 | NP_001333901.1 | ||
VWDE | NM_001346973.2 | c.3626G>T | p.Gly1209Val | missense_variant | Exon 23 of 27 | NP_001333902.1 | ||
VWDE | NR_144534.2 | n.5258G>T | non_coding_transcript_exon_variant | Exon 26 of 30 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000634 AC: 1AN: 157704Hom.: 0 AF XY: 0.0000120 AC XY: 1AN XY: 83242
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1399642Hom.: 0 Cov.: 34 AF XY: 0.00000290 AC XY: 2AN XY: 690314
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4436G>T (p.G1479V) alteration is located in exon 25 (coding exon 25) of the VWDE gene. This alteration results from a G to T substitution at nucleotide position 4436, causing the glycine (G) at amino acid position 1479 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