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NM_170707.4(LMNA):c.139G>A (p.Asp47Asn) AND Congenital muscular dystrophy due to LMNA mutation

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 17, 2024
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:
RCV003987491.3

Allele description [Variation Report for NM_170707.4(LMNA):c.139G>A (p.Asp47Asn)]

NM_170707.4(LMNA):c.139G>A (p.Asp47Asn)

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.139G>A (p.Asp47Asn)
HGVS:
  • NC_000001.11:g.156115057G>A
  • NG_008692.2:g.37485G>A
  • NM_001282625.2:c.139G>A
  • NM_001282626.2:c.139G>A
  • NM_005572.4:c.139G>A
  • NM_170707.4:c.139G>AMANE SELECT
  • NM_170708.4:c.139G>A
  • NP_001269554.1:p.Asp47Asn
  • NP_001269555.1:p.Asp47Asn
  • NP_005563.1:p.Asp47Asn
  • NP_733821.1:p.Asp47Asn
  • NP_733822.1:p.Asp47Asn
  • LRG_254:g.37485G>A
  • NC_000001.10:g.156084848G>A
Protein change:
D47N
Links:
dbSNP: rs267607608
NCBI 1000 Genomes Browser:
rs267607608
Molecular consequence:
  • NM_001282625.2:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.139G>A - 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
SCV004804792Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 17, 2024) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004804792.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024