NM_014000.3(VCL):c.158A>G (p.Asn53Ser) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 22, 2016
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:: RCV000477949.1

Allele description [Variation Report for NM_014000.3(VCL):c.158A>G (p.Asn53Ser)]

NM_014000.3(VCL):c.158A>G (p.Asn53Ser)

Gene:

VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

Preferred name:

NM_014000.3(VCL):c.158A>G (p.Asn53Ser)

HGVS:

NC_000010.11:g.73998365A>G
NG_008868.1:g.5252A>G
NM_003373.4:c.158A>G
NM_014000.3:c.158A>GMANE SELECT
NP_003364.1:p.Asn53Ser
NP_054706.1:p.Asn53Ser
NP_054706.1:p.Asn53Ser
LRG_383t1:c.158A>G
LRG_383:g.5252A>G
LRG_383p1:p.Asn53Ser
NC_000010.10:g.75758123A>G
NM_014000.2:c.158A>G

Protein change:

N53S

Links:

dbSNP: rs751938777

NCBI 1000 Genomes Browser:

rs751938777

Molecular consequence:

NM_003373.4:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014000.3:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Dilated cardiomyopathy 1W (CMD1W)
Identifiers:: MONDO: MONDO:0012667; MedGen: C1969639; Orphanet: 154; OMIM: 611407

Name:: Hypertrophic cardiomyopathy 15
Synonyms:: Familial hypertrophic cardiomyopathy 15
Identifiers:: MONDO: MONDO:0013200; MedGen: C2750459; OMIM: 613255

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000536911	Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq	no assertion criteria provided	Uncertain significance (Aug 22, 2016)	maternal	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000536911

Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq

no assertion criteria provided

Uncertain significance
(Aug 22, 2016)

maternal

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536911.1

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

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

Last Updated: Sep 29, 2024

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