NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 15, 2022
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:: RCV002308292.2

Allele description [Variation Report for NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)]

NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)

Gene:

LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q22.33

Genomic location:

Preferred name:

NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)

HGVS:

NC_000006.12:g.129465269_129465272del
NG_008678.1:g.587129_587132del
NM_000426.4:c.7280_7283delMANE SELECT
NM_001079823.2:c.7280_7283del
NP_000417.2:p.Leu2427Glnfs
NP_000417.3:p.Leu2427fs
NP_001073291.2:p.Leu2427fs
LRG_409t1:c.7280_7283del
LRG_409:g.587129_587132del
LRG_409p1:p.Leu2427Glnfs
NC_000006.11:g.129786414_129786417del
NM_000426.3:c.7280_7283delTGTC

Protein change:

L2427fs

Molecular consequence:

NM_000426.4:c.7280_7283del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079823.2:c.7280_7283del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002601986	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Mar 15, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002601986

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Mar 15, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002601986.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

NM_000426.3(LAMA2):c.7280_7283delTGTC(L2427Qfs*12) 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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