NM_014000.3(VCL):c.952C>T (p.Arg318Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 2, 2010
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:: RCV000038842.5

Allele description [Variation Report for NM_014000.3(VCL):c.952C>T (p.Arg318Cys)]

NM_014000.3(VCL):c.952C>T (p.Arg318Cys)

Gene:

VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

Preferred name:

NM_014000.3(VCL):c.952C>T (p.Arg318Cys)

HGVS:

NC_000010.11:g.74083443C>T
NG_008868.1:g.90330C>T
NM_003373.4:c.952C>T
NM_014000.3:c.952C>TMANE SELECT
NP_003364.1:p.Arg318Cys
NP_054706.1:p.Arg318Cys
NP_054706.1:p.Arg318Cys
LRG_383t1:c.952C>T
LRG_383:g.90330C>T
LRG_383p1:p.Arg318Cys
NC_000010.10:g.75843201C>T
NM_014000.2:c.952C>T
c.952C>T

Protein change:

R318C

Links:

dbSNP: rs397517247

NCBI 1000 Genomes Browser:

rs397517247

Molecular consequence:

NM_003373.4:c.952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014000.3:c.952C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000062520	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jul 2, 2010)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000062520

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jul 2, 2010)

germline

clinical testing

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	not provided	2	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062520.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

The Arg318Cys variant has not been reported in the literature. Arginine (Arg) at position 318 is conserved in some mammals but not in some distant species (the fruit fly and the worm carry a serine and an alanine at this position, respectiv ely), reducing the likelihood that the change is pathogenic. However, in the con text of another, likely pathogenic variant, we are unable to assess the pathogen icity of this variant in isolation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		2	not provided	1	not provided

Last Updated: Sep 29, 2024

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