rs374314985
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 1P and 3B. PP2BP4_ModerateBS2_Supporting
The NM_000552.5(VWF):c.8336C>T(p.Thr2779Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000026 in 1,614,102 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_000552.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000955 AC: 24AN: 251262Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135814
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461868Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 727234
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152234Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74370
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.8336C>T (p.T2779M) alteration is located in exon 52 (coding exon 51) of the VWF gene. This alteration results from a C to T substitution at nucleotide position 8336, causing the threonine (T) at amino acid position 2779 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at