NM_170707.3(LMNA):c.781_783delAAG (p.Lys261del) AND Primary dilated cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: May 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041365.2

Allele description [Variation Report for NM_170707.3(LMNA):c.781_783delAAG (p.Lys261del)]

NM_170707.3(LMNA):c.781_783delAAG (p.Lys261del)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.3(LMNA):c.781_783delAAG (p.Lys261del)
HGVS:
  • NC_000001.11:g.156134946_156134948delAAG
  • NG_008692.2:g.57374_57376delAAG
  • NM_005572.3:c.781_783delAAG
  • NM_170707.3:c.781_783delAAG
  • NM_170708.3:c.781_783delAAG
  • NP_005563.1:p.Lys261del
  • NP_733821.1:p.Lys261del
  • NP_733822.1:p.Lys261del
  • LRG_254t1:c.781_783delAAG
  • LRG_254:g.57374_57376delAAG
  • LRG_254p1:p.Lys261del
  • LRG_254p2:p.Lys261del
  • LRG_254p3:p.Lys261del
  • NC_000001.10:g.156104737_156104739delAAG
  • NM_170707.2:c.781_783delAAG
  • c.781_783delAAG
Protein change:
K261del
Links:
dbSNP: 58978449
NCBI 1000 Genomes Browser:
rs58978449
Molecular consequence:
  • NM_170707.3:c.781_783delAAG - inframe_variant - [Sequence Ontology: SO:0001650]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Congestive cardiomyopathy
Identifiers:
EFO: EFO_0000407; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065058Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(May 18, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.

Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML.

Neurology. 2000 Jul 25;55(2):275-80.

PubMed [citation]
PMID:
10908904

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE.

Am J Med Genet. 2001 Sep 1;102(4):359-67.

PubMed [citation]
PMID:
11503164
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000065058.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

The Lys261del variant has been reported in 2 individuals with a clinical diagnosis and family history of Emery-Dreifuss muscular dystrophy. The variant was absent from over 680 control chromosomes, supporting a pathogenic role (Bonne 2000, Brown 2001, Felice 2000). In addition, our laboratory has detected this variant in one individual whose clinical features were consistent with those of the previously published patients, further increasing the likelihood that this variant is pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Apr 27, 2018