NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu) AND von Willebrand disease type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 10, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002264666.1

Allele description [Variation Report for NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu)]

NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu)

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.5380A>G (p.Lys1794Glu)

Other names:

p.K1794E

HGVS:

NC_000012.12:g.6016164T>C
NG_009072.1:g.113507A>G
NG_009072.2:g.113507A>G
NM_000552.5:c.5380A>GMANE SELECT
NP_000543.3:p.Lys1794Glu
LRG_587t1:c.5380A>G
LRG_587:g.113507A>G
LRG_587p1:p.Lys1794Glu
NC_000012.11:g.6125330T>C
NM_000552.2:c.5380A>G
NM_000552.3:c.5380A>G

Protein change:

K1794E

Links:

dbSNP: rs267607355

NCBI 1000 Genomes Browser:

rs267607355

Molecular consequence:

NM_000552.5:c.5380A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: von Willebrand disease type 1 (VWD1)
Synonyms:: VON WILLEBRAND DISEASE, TYPE I; VWD, TYPE 1
Identifiers:: MONDO: MONDO:0008668; MedGen: C1264039; Orphanet: 166078; Orphanet: 903; OMIM: 193400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002546340	Laboratory of Hematology, Radboud University Medical Center - WIN study	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 10, 2020)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002546340

Laboratory of Hematology, Radboud University Medical Center - WIN study

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 10, 2020)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Hematology, Radboud University Medical Center - WIN study, SCV002546340.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Jul 18, 2022

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