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NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) AND Congenital muscular dystrophy due to LMNA mutation

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 15, 2018
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:
RCV000785916.2

Allele description [Variation Report for NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)]

NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)

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.94A>G (p.Lys32Glu)
HGVS:
  • NC_000001.11:g.156115012A>G
  • NG_008692.2:g.37440A>G
  • NM_001282625.2:c.94A>G
  • NM_001282626.2:c.94A>G
  • NM_005572.4:c.94A>G
  • NM_170707.4:c.94A>GMANE SELECT
  • NM_170708.4:c.94A>G
  • NP_001269554.1:p.Lys32Glu
  • NP_001269555.1:p.Lys32Glu
  • NP_005563.1:p.Lys32Glu
  • NP_733821.1:p.Lys32Glu
  • NP_733822.1:p.Lys32Glu
  • LRG_254:g.37440A>G
  • NC_000001.10:g.156084803A>G
  • NM_170707.3:c.94A>G
Protein change:
K32E
Links:
dbSNP: rs1553261891
NCBI 1000 Genomes Browser:
rs1553261891
Molecular consequence:
  • NM_001282625.2:c.94A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.94A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.94A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.94A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.94A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV000924493Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 15, 2018) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV000924493.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The heterozygous p.Lys32Glu variant was identified by our study in one individual with congenital muscular dystrophy. Trio exome analysis showed this variant to be de novo. This variant has been identified in the literature in one affected heterozygous proband (Monges et al. 2011). This variant was absent from large population studies. The Lysine (Lys) at position 32 is highly conserved in mammals and evolutionarily distant species, supporting that a change at this position may not be tolerated. Additionally, computational prediction tools suggest that this variant may impact the protein. A lab has reported this variant as likely pathogenic in Clinvar; however, the phenotype listed is Charcot-Marie-Tooth disease. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic for congenital muscular dystrophy.

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

Last Updated: Sep 29, 2024