NM_000552.5(VWF):c.3163A>G (p.Met1055Val) AND von Willebrand disease type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 24, 2023
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:: RCV003444475.1

Allele description [Variation Report for NM_000552.5(VWF):c.3163A>G (p.Met1055Val)]

NM_000552.5(VWF):c.3163A>G (p.Met1055Val)

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.3163A>G (p.Met1055Val)

HGVS:

NC_000012.12:g.6025639T>C
NG_009072.2:g.104032A>G
NM_000552.5:c.3163A>GMANE SELECT
NP_000543.3:p.Met1055Val
LRG_587t1:c.3163A>G
LRG_587:g.104032A>G
LRG_587p1:p.Met1055Val
NC_000012.11:g.6134805T>C
NM_000552.3:c.3163A>G

Protein change:

M1055V

Molecular consequence:

NM_000552.5:c.3163A>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004171573	Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	no assertion criteria provided	Uncertain significance (Nov 24, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004171573

Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

no assertion criteria provided

Uncertain significance
(Nov 24, 2023)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004171573.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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		not provided	not provided	not provided	not provided

Last Updated: Dec 9, 2023

ClinVar

Relating variation to medicine