7-12340388-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001135924.3(VWDE):c.4300G>A(p.Gly1434Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000374 in 1,551,434 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VWDE | NM_001135924.3 | c.4300G>A | p.Gly1434Ser | missense_variant | Exon 24 of 29 | ENST00000275358.8 | NP_001129396.1 | |
VWDE | NM_001346972.2 | c.3955G>A | p.Gly1319Ser | missense_variant | Exon 22 of 27 | NP_001333901.1 | ||
VWDE | NM_001346973.2 | c.3490G>A | p.Gly1164Ser | missense_variant | Exon 22 of 27 | NP_001333902.1 | ||
VWDE | NR_144534.2 | n.5122G>A | non_coding_transcript_exon_variant | Exon 25 of 30 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000320 AC: 5AN: 156376Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82878
GnomAD4 exome AF: 0.0000186 AC: 26AN: 1399214Hom.: 0 Cov.: 30 AF XY: 0.0000174 AC XY: 12AN XY: 690124
GnomAD4 genome AF: 0.000210 AC: 32AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.000228 AC XY: 17AN XY: 74414
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4300G>A (p.G1434S) alteration is located in exon 24 (coding exon 24) of the VWDE gene. This alteration results from a G to A substitution at nucleotide position 4300, causing the glycine (G) at amino acid position 1434 to be replaced by a serine (S). 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