NM_004006.3(DMD):c.835A>G (p.Thr279Ala) AND Dilated cardiomyopathy 3B

Clinical significance:Pathogenic (Last evaluated: May 20, 1997)
Review status:(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000012030.19

Allele description [Variation Report for NM_004006.3(DMD):c.835A>G (p.Thr279Ala)]

NM_004006.3(DMD):c.835A>G (p.Thr279Ala)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.835A>G (p.Thr279Ala)

HGVS:

NC_000023.11:g.32697995T>C
NG_012232.1:g.646615A>G
NM_000109.4:c.811A>G
NM_004006.3:c.835A>GMANE SELECT
NM_004009.3:c.823A>G
NM_004010.3:c.466A>G
NP_000100.3:p.Thr271Ala
NP_003997.2:p.Thr279Ala
NP_004000.1:p.Thr275Ala
NP_004001.1:p.Thr156Ala
LRG_199:g.646615A>G
NC_000023.10:g.32716112T>C

Protein change:

T156A; THR279ALA

Links:

OMIM: 300377.0073; dbSNP: rs128627255

NCBI 1000 Genomes Browser:

rs128627255

Molecular consequence:

NM_000109.4:c.811A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004006.3:c.835A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004009.3:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004010.3:c.466A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Dilated cardiomyopathy 3B (CMD3B)
Synonyms:: CARDIOMYOPATHY, DILATED, X-LINKED; CMD3B: DMD-Related Dilated Cardiomyopathy
Identifiers:: MONDO: MONDO:0010542; MedGen: C3668940; Orphanet: 154; OMIM: 302045

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032264	OMIM	no assertion criteria provided	Pathogenic (May 20, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032264

OMIM

no assertion criteria provided

Pathogenic
(May 20, 1997)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.

Ortiz-Lopez R, Li H, Su J, Goytia V, Towbin JA.

Circulation. 1997 May 20;95(10):2434-40.

PubMed [citation]

PMID:: 9170407

Details of each submission

From OMIM, SCV000032264.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Ortiz-Lopez et al. (1997) used SSCP analysis and direct sequencing to identify the causative mutation in a large North American family with X-linked cardiomyopathy (CMD3B; 302045). An A-to-G mutation at nucleotide 1043 was present only in affected males and carriers. The mutation changed a highly conserved threonine to alanine at amino acid position 279 within the H1 region of the dystrophin molecule. This change is predicted to result in loss of cardiac myocyte membrane integrity and eventual loss of contractile function.

#	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		not provided	not provided	not provided	not provided

Last Updated: Mar 18, 2023

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