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NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) AND Muscular dystrophy, limb-girdle, autosomal recessive 23

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 11, 2019
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:
RCV001375997.1

Allele description [Variation Report for NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)]

NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)

Gene:
LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.33
Genomic location:
Preferred name:
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
HGVS:
  • NC_000006.12:g.129342379C>T
  • NG_008678.1:g.464239C>T
  • NM_000426.4:c.4348C>TMANE SELECT
  • NM_001079823.2:c.4348C>T
  • NP_000417.2:p.Arg1450Ter
  • NP_000417.3:p.Arg1450Ter
  • NP_001073291.2:p.Arg1450Ter
  • LRG_409t1:c.4348C>T
  • LRG_409:g.464239C>T
  • LRG_409p1:p.Arg1450Ter
  • NC_000006.11:g.129663524C>T
  • NM_000426.3:c.4348C>T
Protein change:
R1450*
Links:
dbSNP: rs200923373
NCBI 1000 Genomes Browser:
rs200923373
Molecular consequence:
  • NM_000426.4:c.4348C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079823.2:c.4348C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Muscular dystrophy, limb-girdle, autosomal recessive 23
Identifiers:
MONDO: MONDO:0029136; MedGen: C4748327; OMIM: 618138

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001573001Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 11, 2019) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

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 Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS, SCV001573001.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024