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NM_170707.4(LMNA):c.254T>G (p.Leu85Arg) AND Dilated cardiomyopathy 1A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 1999
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:
RCV000015568.25

Allele description [Variation Report for NM_170707.4(LMNA):c.254T>G (p.Leu85Arg)]

NM_170707.4(LMNA):c.254T>G (p.Leu85Arg)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg)
HGVS:
  • NC_000001.11:g.156115172T>G
  • NG_008692.2:g.37600T>G
  • NM_001282625.2:c.254T>G
  • NM_001282626.2:c.254T>G
  • NM_005572.4:c.254T>G
  • NM_170707.4:c.254T>GMANE SELECT
  • NM_170708.4:c.254T>G
  • NP_001269554.1:p.Leu85Arg
  • NP_001269555.1:p.Leu85Arg
  • NP_005563.1:p.Leu85Arg
  • NP_733821.1:p.Leu85Arg
  • NP_733822.1:p.Leu85Arg
  • LRG_254t2:c.254T>G
  • LRG_254:g.37600T>G
  • NC_000001.10:g.156084963T>G
  • NM_170707.2:c.254T>G
  • P02545:p.Leu85Arg
Protein change:
L85R; LEU85ARG
Links:
UniProtKB: P02545#VAR_009975; OMIM: 150330.0006; dbSNP: rs28933090
NCBI 1000 Genomes Browser:
rs28933090
Molecular consequence:
  • NM_001282625.2:c.254T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.254T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.254T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.254T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.254T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1A (CMD1A)
Synonyms:
CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035833OMIM
no assertion criteria provided
Pathogenic
(Dec 2, 1999) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.

N Engl J Med. 1999 Dec 2;341(23):1715-24.

PubMed [citation]
PMID:
10580070

Details of each submission

From OMIM, SCV000035833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with autosomal dominant dilated cardiomyopathy with conduction defects (CMD1A; 115200), Fatkin et al. (1999) identified a 254T-G transversion in the LMNA gene, resulting in a leu85-to-arg (L85R) substitution.

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

Last Updated: May 1, 2024