NM_000552.5(VWF):c.1626G>A (p.Ala542=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 20, 2021
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:: RCV001812680.13

Allele description

NM_000552.5(VWF):c.1626G>A (p.Ala542=)

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.1626G>A (p.Ala542=)

HGVS:

NC_000012.12:g.6057952C>T
NG_009072.2:g.71719G>A
NM_000552.5:c.1626G>AMANE SELECT
NP_000543.3:p.Ala542=
LRG_587t1:c.1626G>A
LRG_587:g.71719G>A
LRG_587p1:p.Ala542=
NC_000012.11:g.6167118C>T
NG_009072.1:g.71719G>A
NM_000552.3:c.1626G>A
p.Ala542Ala

Links:

dbSNP: rs35365059

NCBI 1000 Genomes Browser:

rs35365059

Molecular consequence:

NM_000552.5:c.1626G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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methyl-accepting chemotaxis protein Tar [Escherichia coli str. K-12 substr. MG16...
methyl-accepting chemotaxis protein Tar [Escherichia coli str. K-12 substr. MG1655]
gi|16129838|gnl|REF_b1886|NP_416400 NP_416400.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000884877	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Benign (Jan 20, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000884877

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Benign
(Jan 20, 2021)

germline

clinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884877.3

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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