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NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) AND Hutchinson-Gilford progeria syndrome, atypical

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 15, 2003
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:
RCV000015596.22

Allele description

NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)

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.433G>A (p.Glu145Lys)
HGVS:
  • NC_000001.11:g.156130693G>A
  • NG_008692.2:g.53121G>A
  • NM_001257374.3:c.97G>A
  • NM_001282624.2:c.190G>A
  • NM_001282625.2:c.433G>A
  • NM_001282626.2:c.433G>A
  • NM_005572.4:c.433G>A
  • NM_170707.4:c.433G>AMANE SELECT
  • NM_170708.4:c.433G>A
  • NP_001244303.1:p.Glu33Lys
  • NP_001269553.1:p.Glu64Lys
  • NP_001269554.1:p.Glu145Lys
  • NP_001269555.1:p.Glu145Lys
  • NP_005563.1:p.Glu145Lys
  • NP_733821.1:p.Glu145Lys
  • NP_733822.1:p.Glu145Lys
  • LRG_254t2:c.433G>A
  • LRG_254:g.53121G>A
  • LRG_254p2:p.Glu145Lys
  • NC_000001.10:g.156100484G>A
  • NM_170707.2:c.433G>A
  • P02545:p.Glu145Lys
Protein change:
E145K; GLU145LYS
Links:
UniProtKB: P02545#VAR_017659; OMIM: 150330.0024; dbSNP: rs60310264
NCBI 1000 Genomes Browser:
rs60310264
Molecular consequence:
  • NM_001257374.3:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.433G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.433G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.433G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.433G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.433G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hutchinson-Gilford progeria syndrome, atypical
Identifiers:
MedGen: C4016241

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035861OMIM
no assertion criteria provided
Pathogenic
(May 15, 2003) 		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

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS.

Nature. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.

PubMed [citation]
PMID:
12714972
PMCID:
PMC10540076

Details of each submission

From OMIM, SCV000035861.2

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

Description

In a patient with somewhat atypical features of progeria (176670), Eriksson et al. (2003) identified a glu-to-lys substitution at codon 145 (E145K) in exon 2 of the LMNA gene. This mutation was not identified in either parent. Atypical clinical features, including persistence of coarse hair over the head, ample subcutaneous tissue over the arms and legs, and severe strokes beginning at age 4, may subtly distinguish this phenotype from classic HGPS.

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

Last Updated: Feb 5, 2022