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NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 1, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001270529.9

Allele description [Variation Report for NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)]

NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
Other names:
p.R854Q
HGVS:
  • NC_000012.12:g.6034812C>T
  • NG_009072.2:g.94859G>A
  • NM_000552.5:c.2561G>AMANE SELECT
  • NM_000552.5:c.2561G>A
  • NP_000543.2:p.Arg854Gln
  • NP_000543.3:p.Arg854Gln
  • LRG_587t1:c.2561G>A
  • LRG_587:g.94859G>A
  • LRG_587p1:p.Arg854Gln
  • NC_000012.11:g.6143978C>T
  • NC_000012.12:g.6034812C>T
  • NG_009072.1:g.94859G>A
  • NM_000552.2:c.2561G>A
  • NM_000552.3:c.2561G>A
  • NM_000552.4:c.2561G>A
  • P04275:p.Arg854Gln
Protein change:
R854Q; ARG854GLN
Links:
UniProtKB: P04275#VAR_005789; OMIM: 613160.0013; dbSNP: rs41276738
NCBI 1000 Genomes Browser:
rs41276738
Molecular consequence:
  • NM_000552.5:c.2561G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormal bleeding
Identifiers:
MedGen: C1458140; Human Phenotype Ontology: HP:0001892
Name:
Thrombocytopenia
Identifiers:
MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450828Birmingham Platelet Group; University of Birmingham
no assertion criteria provided
Likely pathogenic
(May 1, 2020) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Birmingham Platelet Group; University of Birmingham, SCV001450828.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024