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NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 16, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004546422.1

Allele description [Variation Report for NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)]

NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)

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.1129C>T (p.Arg377Cys)
HGVS:
  • NC_000001.11:g.156136093C>T
  • NG_008692.2:g.58521C>T
  • NM_001257374.3:c.793C>T
  • NM_001282624.2:c.886C>T
  • NM_001282625.2:c.1129C>T
  • NM_001282626.2:c.1129C>T
  • NM_005572.4:c.1129C>T
  • NM_170707.4:c.1129C>TMANE SELECT
  • NM_170708.4:c.1129C>T
  • NP_001244303.1:p.Arg265Cys
  • NP_001269553.1:p.Arg296Cys
  • NP_001269554.1:p.Arg377Cys
  • NP_001269555.1:p.Arg377Cys
  • NP_005563.1:p.Arg377Cys
  • NP_005563.1:p.Arg377Cys
  • NP_733821.1:p.Arg377Cys
  • NP_733822.1:p.Arg377Cys
  • LRG_254t1:c.1129C>T
  • LRG_254t2:c.1129C>T
  • LRG_254:g.58521C>T
  • LRG_254p1:p.Arg377Cys
  • NC_000001.10:g.156105884C>T
  • NM_005572.3:c.1129C>T
  • NM_170707.2:c.1129C>T
  • NM_170707.3:c.1129C>T
  • c.1129C>T
  • p.(Arg377Cys)
Protein change:
R265C
Links:
dbSNP: rs397517889
NCBI 1000 Genomes Browser:
rs397517889
Molecular consequence:
  • NM_001257374.3:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.1129C>T - 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
Name:
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Synonyms:
MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021569; MedGen: C0410190; Orphanet: 261; Orphanet: 264; OMIM: 181350
Name:
Congenital muscular dystrophy due to LMNA mutation
Synonyms:
Congenital muscular dystrophy, LMNA-related; Lamin A-related Congenital Muscular Dystrophy
Identifiers:
MONDO: MONDO:0013178; MedGen: C2750785; Orphanet: 157973; OMIM: 613205

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005043000Institute of Immunology and Genetics Kaiserslautern
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 16, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Immunology and Genetics Kaiserslautern, SCV005043000.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG Criteria: PS4, PM2_P, PM5, PM1, PP1, PP5; Variant was found in heterozygous state

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

Last Updated: Sep 29, 2024