rs41276736
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_000552.5(VWF):c.5277C>T(p.Asp1759Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0117 in 1,614,152 control chromosomes in the GnomAD database, including 136 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000552.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00794 AC: 1208AN: 152178Hom.: 7 Cov.: 32
GnomAD3 exomes AF: 0.00795 AC: 1998AN: 251380Hom.: 18 AF XY: 0.00801 AC XY: 1089AN XY: 135880
GnomAD4 exome AF: 0.0121 AC: 17626AN: 1461856Hom.: 129 Cov.: 32 AF XY: 0.0117 AC XY: 8490AN XY: 727228
GnomAD4 genome AF: 0.00793 AC: 1208AN: 152296Hom.: 7 Cov.: 32 AF XY: 0.00771 AC XY: 574AN XY: 74468
ClinVar
Submissions by phenotype
not provided Benign:3
VWF: BP4, BP7, BS1, BS2 -
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Hereditary von Willebrand disease Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at