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NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 14, 2021
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:
RCV002309817.2

Allele description [Variation Report for NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)]

NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)

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.3705G>A (p.Trp1235Ter)
HGVS:
  • NC_000006.12:g.129315625G>A
  • NG_008678.1:g.437485G>A
  • NM_000426.4:c.3705G>AMANE SELECT
  • NM_001079823.2:c.3705G>A
  • NP_000417.2:p.Trp1235Ter
  • NP_000417.3:p.Trp1235Ter
  • NP_001073291.2:p.Trp1235Ter
  • LRG_409t1:c.3705G>A
  • LRG_409:g.437485G>A
  • LRG_409p1:p.Trp1235Ter
  • NC_000006.11:g.129636770G>A
  • NM_000426.3:c.3705G>A
Protein change:
W1235*
Molecular consequence:
  • NM_000426.4:c.3705G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079823.2:c.3705G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Merosin deficient congenital muscular dystrophy (MDC1A)
Synonyms:
Muscular dystrophy congenital, merosin negative; Congenital merosin-deficient muscular dystrophy 1A
Identifiers:
MONDO: MONDO:0011925; MedGen: C1263858; Orphanet: 258; OMIM: 607855
Name:
Muscular dystrophy, limb-girdle, autosomal recessive 23
Identifiers:
MONDO: MONDO:0029136; MedGen: C4748327; OMIM: 618138

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603696Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Nov 14, 2021) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603696.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000426.3(LAMA2):c.3705G>A(W1235*) is expected to be pathogenic in the context of muscular dystrophy, LAMA2-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in LAMA2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022