NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 18, 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:: RCV002307118.2

Allele description [Variation Report for NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)]

NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)

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.4167_4170del (p.Ser1390fs)

HGVS:

NC_000006.12:g.129320646_129320649del
NG_008678.1:g.442506_442509del
NM_000426.4:c.4167_4170delMANE SELECT
NM_001079823.2:c.4167_4170del
NP_000417.2:p.Ser1390Valfs
NP_000417.3:p.Ser1390fs
NP_001073291.2:p.Ser1390fs
LRG_409t1:c.4167_4170del
LRG_409:g.442506_442509del
LRG_409p1:p.Ser1390Valfs
NC_000006.11:g.129641791_129641794del
NM_000426.3:c.4167_4170delGTCC

Protein change:

S1390fs

Molecular consequence:

NM_000426.4:c.4167_4170del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079823.2:c.4167_4170del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002604588	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (May 18, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002604588

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(May 18, 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., SCV002604588.2

#	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.4167_4170delGTCC(S1390Vfs*83) 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

ClinVar

Relating variation to medicine