U.S. flag

An official website of the United States government

NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) AND Lipodystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 4, 2017
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:
RCV000755005.3

Allele description

NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)

Genes:
LOC129931597:ATAC-STARR-seq lymphoblastoid silent region 1421 [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.29C>T (p.Thr10Ile)
HGVS:
  • NC_000001.11:g.156114947C>T
  • NG_008692.2:g.37375C>T
  • NM_001282625.2:c.29C>T
  • NM_001282626.2:c.29C>T
  • NM_005572.4:c.29C>T
  • NM_170707.4:c.29C>TMANE SELECT
  • NM_170708.4:c.29C>T
  • NP_001269554.1:p.Thr10Ile
  • NP_001269555.1:p.Thr10Ile
  • NP_005563.1:p.Thr10Ile
  • NP_005563.1:p.Thr10Ile
  • NP_733821.1:p.Thr10Ile
  • NP_733822.1:p.Thr10Ile
  • LRG_254t1:c.29C>T
  • LRG_254t2:c.29C>T
  • LRG_254:g.37375C>T
  • LRG_254p1:p.Thr10Ile
  • NC_000001.10:g.156084738C>T
  • NM_005572.3:c.29C>T
  • NM_170707.2:c.29C>T
  • NM_170707.3:c.29C>T
  • P02545:p.Thr10Ile
  • p.T10I
Protein change:
T10I
Links:
UniProtKB: P02545#VAR_039745; OMIM: 150330.0029; dbSNP: rs57077886
NCBI 1000 Genomes Browser:
rs57077886
Molecular consequence:
  • NM_001282625.2:c.29C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.29C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.29C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.29C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.29C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lipodystrophy
Synonyms:
Lipodystrophy (disease)
Identifiers:
MONDO: MONDO:0006573; MedGen: C0023787; Human Phenotype Ontology: HP:0009125

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000809014Medical Research Institute, Tokyo Medical and Dental University
no assertion criteria provided
Pathogenic
(Oct 4, 2017) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Japanesegermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Medical Research Institute, Tokyo Medical and Dental University, SCV000809014.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Japanese1not providednot providedresearchnot provided

Description

Patient, a 31 year-old woman, was noted to present with generalized lipodystrophy in childhood. She had hypertriglyceridemia. Metreleptin therapy was started. Aortic stenosis was noted and aortic valve implantation was conducted. This mutation was heterozygous.

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

Last Updated: Oct 14, 2023