NM_000552.5(VWF):c.3379C>T (p.Pro1127Ser) AND VWF-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 28, 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:: RCV004554402.2

Allele description [Variation Report for NM_000552.5(VWF):c.3379C>T (p.Pro1127Ser)]

NM_000552.5(VWF):c.3379C>T (p.Pro1127Ser)

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.3379C>T (p.Pro1127Ser)

HGVS:

NC_000012.12:g.6023631G>A
NG_009072.2:g.106040C>T
NM_000552.5:c.3379C>TMANE SELECT
NP_000543.3:p.Pro1127Ser
LRG_587t1:c.3379C>T
LRG_587:g.106040C>T
LRG_587p1:p.Pro1127Ser
NC_000012.11:g.6132797G>A
NM_000552.4:c.3379C>T

Protein change:

P1127S

Molecular consequence:

NM_000552.5:c.3379C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: VWF-related disorder
Synonyms:: VWF-related disorders; VWF-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004781505	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Nov 28, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004781505

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Nov 28, 2023)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004781505.2

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

Description

The VWF c.3379C>T variant is predicted to result in the amino acid substitution p.Pro1127Ser. This variant was reported in a family with VWF related disease (Sacco et al. 2022. PubMed ID: 35596664). This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: Oct 26, 2024

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