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NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 8, 2017
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:
RCV000622662.3

Allele description [Variation Report for NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)]

NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)

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.6539A>T (p.Asp2180Val)
Other names:
p.Asp2180Val
HGVS:
  • NC_000006.12:g.129453097A>T
  • NG_008678.1:g.574957A>T
  • NM_000426.4:c.6539A>TMANE SELECT
  • NM_001079823.2:c.6539A>T
  • NP_000417.2:p.Asp2180Val
  • NP_000417.3:p.Asp2180Val
  • NP_001073291.2:p.Asp2180Val
  • LRG_409t1:c.6539A>T
  • LRG_409:g.574957A>T
  • LRG_409p1:p.Asp2180Val
  • NC_000006.11:g.129774242A>T
  • NM_000426.3:c.6539A>T
Protein change:
D2180V
Links:
dbSNP: rs567385461
NCBI 1000 Genomes Browser:
rs567385461
Molecular consequence:
  • NM_000426.4:c.6539A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079823.2:c.6539A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000742488Ambry Genetics
criteria provided, single submitter

(ambry_reporting_categories_2017)		Uncertain significance
(May 8, 2017) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1yesclinical testing

Citations

PubMed

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.

Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E.

Muscle Nerve. 2011 Nov;44(5):703-9. doi: 10.1002/mus.22132. Epub 2011 Sep 26.

PubMed [citation]
PMID:
21953594

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

Tezak Z, Prandini P, Boscaro M, Marin A, Devaney J, Marino M, Fanin M, Trevisan CP, Park J, Tyson W, Finkel R, Garcia C, Angelini C, Hoffman EP, Pegoraro E.

Hum Mutat. 2003 Feb;21(2):103-11.

PubMed [citation]
PMID:
12552556
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000742488.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesclinical testing PubMed (6)

Description

Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024