NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 22, 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:: RCV000624581.2

Allele description [Variation Report for NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)]

NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)

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.939_940del (p.Cys314fs)

HGVS:

NC_000006.12:g.129149008_129149009del
NG_008678.1:g.270868_270869del
NM_000426.4:c.939_940delMANE SELECT
NM_001079823.2:c.939_940del
NP_000417.2:p.Cys314fs
NP_000417.3:p.Cys314fs
NP_001073291.2:p.Cys314fs
LRG_409t1:c.939_940del
LRG_409:g.270868_270869del
LRG_409p1:p.Cys314fs
NC_000006.11:g.129470153_129470154del
NM_000426.3:c.939_940del
NM_000426.3:c.939_940delAT
NM_000426.4:c.939_940delATMANE SELECT

Protein change:

C314fs

Links:

dbSNP: rs1209130981

NCBI 1000 Genomes Browser:

rs1209130981

Molecular consequence:

NM_000426.4:c.939_940del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079823.2:c.939_940del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742966	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Sep 22, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742966

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Sep 22, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000742966.3

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

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

Last Updated: Nov 30, 2024

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