NM_170707.3(LMNA):c.688G>A (p.Asp230Asn) AND Familial partial lipodystrophy 2

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2007)

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:
RCV000015615.26

Allele description [Variation Report for NM_170707.3(LMNA):c.688G>A (p.Asp230Asn)]

NM_170707.3(LMNA):c.688G>A (p.Asp230Asn)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.3(LMNA):c.688G>A (p.Asp230Asn)
HGVS:
  • NC_000001.11:g.156134853G>A
  • NG_008692.2:g.57281G>A
  • NM_005572.3:c.688G>A
  • NM_170707.3:c.688G>A
  • NM_170708.3:c.688G>A
  • NP_005563.1:p.Asp230Asn
  • NP_733821.1:p.Asp230Asn
  • NP_733822.1:p.Asp230Asn
  • LRG_254t1:c.688G>A
  • LRG_254:g.57281G>A
  • LRG_254p1:p.Asp230Asn
  • LRG_254p2:p.Asp230Asn
  • LRG_254p3:p.Asp230Asn
  • NC_000001.10:g.156104644G>A
  • NM_170707.2:c.688G>A
  • P02545:p.Asp230Asn
Protein change:
D230N; ASP230ASN
Links:
UniProtKB: P02545#VAR_039770; OMIM: 150330.0042; dbSNP: 61214927
NCBI 1000 Genomes Browser:
rs61214927
Molecular consequence:
  • NM_005572.3:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial partial lipodystrophy 2 (FPLD2)
Identifiers:
MedGen: C1720860; Orphanet: 2348; OMIM: 151660

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035880OMIMno assertion criteria providedPathogenic
(Feb 1, 2007)
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

Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

Lanktree M, Cao H, Rabkin SW, Hanna A, Hegele RA.

Clin Genet. 2007 Feb;71(2):183-6. No abstract available.

PubMed [citation]
PMID:
17250669

Details of each submission

From OMIM, SCV000035880.2

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

Description

In a 46-year-old South Asian female with partial lipodystrophy (151660), Lanktree et al. (2007) identified heterozygosity for a 688G-A transition in exon 4 of the LMNA gene, resulting in an asp230-to-asn (D230N) substitution at a conserved residue located 5-prime to the nuclear localization signal. The mutation, predicted to affect only the lamin A isoform, was not found in 200 controls of multiple ethnic backgrounds.

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

Last Updated: Sep 21, 2017