NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 17, 2014
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:: RCV000157173.1

Allele description [Variation Report for NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)]

NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)

Gene:

DSC2:desmocollin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)

Other names:

p.L732V:TTA>GTA

HGVS:

NC_000018.10:g.31070782A>C
NG_008208.2:g.36644T>G
NM_004949.5:c.2194T>G
NM_024422.6:c.2194T>GMANE SELECT
NP_004940.1:p.Leu732Val
NP_077740.1:p.Leu732Val
LRG_400t1:c.2194T>G
LRG_400:g.36644T>G
NC_000018.9:g.28650748A>C
NM_004949.3:c.2194T>G
NM_024422.3:c.2194T>G
NM_024422.4:c.2194T>G
c.2194T>G

Protein change:

L732V

Links:

dbSNP: rs151024019

NCBI 1000 Genomes Browser:

rs151024019

Molecular consequence:

NM_004949.5:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024422.6:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:: Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:: MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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aspartate-semialdehyde dehydrogenase-like protein [Diaporthe australafricana]
aspartate-semialdehyde dehydrogenase-like protein [Diaporthe australafricana]
gi|2809845149|gb|KAL1867073.1||gnl| AWRVE|Daus18300_006472-T1

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000206897	Blueprint Genetics	no assertion criteria provided	Likely benign (Oct 17, 2014)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20031616, 21606396, 21859740, 21606390

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000206897

Blueprint Genetics

no assertion criteria provided

Likely benign
(Oct 17, 2014)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP.

Circ Cardiovasc Genet. 2009 Oct;2(5):418-27. doi: 10.1161/CIRCGENETICS.108.839829. Epub 2009 Aug 1.

PubMed [citation]

PMID:: 20031616

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.

Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN.

Circulation. 2011 Jun 14;123(23):2690-700. doi: 10.1161/CIRCULATIONAHA.110.988287. Epub 2011 May 23.

PubMed [citation]

PMID:: 21606396

See all PubMed Citations (4)

Details of each submission

From Blueprint Genetics, SCV000206897.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Oct 20, 2024

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