7-12337236-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001135924.3(VWDE):c.4403G>A(p.Cys1468Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VWDE | NM_001135924.3 | c.4403G>A | p.Cys1468Tyr | missense_variant | Exon 25 of 29 | ENST00000275358.8 | NP_001129396.1 | |
VWDE | NM_001346972.2 | c.4058G>A | p.Cys1353Tyr | missense_variant | Exon 23 of 27 | NP_001333901.1 | ||
VWDE | NM_001346973.2 | c.3593G>A | p.Cys1198Tyr | missense_variant | Exon 23 of 27 | NP_001333902.1 | ||
VWDE | NR_144534.2 | n.5225G>A | non_coding_transcript_exon_variant | Exon 26 of 30 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4403G>A (p.C1468Y) alteration is located in exon 25 (coding exon 25) of the VWDE gene. This alteration results from a G to A substitution at nucleotide position 4403, causing the cysteine (C) at amino acid position 1468 to be replaced by a tyrosine (Y). 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
Publications
No publications associated with this variant yet.