NM_000109.4(DMD):c.811A>G (p.Thr271Ala) 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

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012030.18

Allele description [Variation Report for NM_000109.4(DMD):c.811A>G (p.Thr271Ala)]

NM_000109.4(DMD):c.811A>G (p.Thr271Ala)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_000109.4(DMD):c.811A>G (p.Thr271Ala)
HGVS:
  • NC_000023.11:g.32697995T>C
  • NG_012232.1:g.646615A>G
  • NM_000109.4:c.811A>G
  • NM_004006.2:c.835A>G
  • NM_004009.3:c.823A>G
  • NM_004010.3:c.466A>G
  • NP_000100.3:p.Thr271Ala
  • NP_003997.1:p.Thr279Ala
  • NP_004000.1:p.Thr275Ala
  • NP_004001.1:p.Thr156Ala
  • LRG_199t1:c.835A>G
  • LRG_199:g.646615A>G
  • LRG_199p1:p.Thr279Ala
  • 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_004006.2: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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032264OMIMno assertion criteria providedPathogenic
(May 20, 1997)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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, SCV000032264.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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 (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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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