NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jul 25, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000498487.7

Allele description [Variation Report for NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)]

NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)

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.7074C>A (p.Tyr2358Ter)

HGVS:

NC_000006.12:g.129464371C>A
NG_008678.1:g.586231C>A
NM_000426.4:c.7074C>AMANE SELECT
NM_001079823.2:c.7074C>A
NP_000417.2:p.Tyr2358Ter
NP_000417.3:p.Tyr2358Ter
NP_001073291.2:p.Tyr2358Ter
LRG_409t1:c.7074C>A
LRG_409:g.586231C>A
LRG_409p1:p.Tyr2358Ter
NC_000006.11:g.129785516C>A
NM_000426.3:c.7074C>A
p.Tyr2358*

Protein change:

Y2358*

Links:

dbSNP: rs762806915

NCBI 1000 Genomes Browser:

rs762806915

Molecular consequence:

NM_000426.4:c.7074C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001079823.2:c.7074C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000589573	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 6, 2019)	germline	clinical testing	Citation Link,
SCV000613979	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Jun 30, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9674786, 11369186, 26467025
SCV003818943	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 25, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000589573

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 6, 2019)

germline

clinical testing

Citation Link,

SCV000613979

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Jun 30, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV003818943

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 25, 2022)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bönnemann CC, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, et al.

Neurology. 1998 Jul;51(1):101-10.

PubMed [citation]

PMID:: 9674786

Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy.

Hayashi YK, Tezak Z, Momoi T, Nonaka I, Garcia CA, Hoffman EP, Arahata K.

Neuromuscul Disord. 2001 May;11(4):350-9.

PubMed [citation]

PMID:: 11369186

See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000589573.5

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

Description

Observed in a patient with congenital muscular dystrophy who harbored a second pathogenic LAMA2 variant in the published literature (Pegoraro et al., 1998); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 9674786, 11369186, 30055037)

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

From Athena Diagnostics, SCV000613979.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

From Revvity Omics, Revvity, SCV003818943.2

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

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

Last Updated: Sep 29, 2024

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