NM_001130142.2(VWA5A):c.1150G>A (p.Gly384Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 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:: RCV004123033.1

Allele description [Variation Report for NM_001130142.2(VWA5A):c.1150G>A (p.Gly384Ser)]

NM_001130142.2(VWA5A):c.1150G>A (p.Gly384Ser)

Gene:

VWA5A:von Willebrand factor A domain containing 5A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.2

Genomic location:

Preferred name:

NM_001130142.2(VWA5A):c.1150G>A (p.Gly384Ser)

HGVS:

NC_000011.10:g.124123790G>A
NM_001130142.2:c.1150G>AMANE SELECT
NM_014622.5:c.1150G>A
NM_198315.3:c.1150G>A
NP_001123614.1:p.Gly384Ser
NP_055437.2:p.Gly384Ser
NP_938057.1:p.Gly384Ser
NC_000011.9:g.123994497G>A
NM_001130142.1:c.1150G>A

Protein change:

G384S

Molecular consequence:

NM_001130142.2:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014622.5:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198315.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Chiroptera
Chiroptera
Order of mammals whose members are adapted for flight. It includes bats, flying foxes, and fruit bats.<br/>

MeSH
Marsupialia
Marsupialia
An infraclass of MAMMALS, also called Metatheria, where the young are born at an early stage of development and continue to develop in a pouch (marsupium). In contrast to Euth...<br/>

MeSH

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
SCV003601429	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 20, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003601429

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 20, 2021)

germline

clinical testing

Citation Link

Help

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 Ambry Genetics, SCV003601429.2

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

Description

The c.1150G>A (p.G384S) alteration is located in exon 10 (coding exon 8) of the VWA5A gene. This alteration results from a G to A substitution at nucleotide position 1150, causing the glycine (G) at amino acid position 384 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine