NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) AND Muscular dystrophy, limb-girdle, autosomal recessive 23

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 29, 2019
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:: RCV001270116.3

Allele description [Variation Report for NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)]

NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)

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.3532G>A (p.Ala1178Thr)

HGVS:

NC_000006.12:g.129314775G>A
NG_008678.1:g.436635G>A
NM_000426.4:c.3532G>AMANE SELECT
NM_001079823.2:c.3532G>A
NP_000417.2:p.Ala1178Thr
NP_000417.3:p.Ala1178Thr
NP_001073291.2:p.Ala1178Thr
LRG_409t1:c.3532G>A
LRG_409:g.436635G>A
LRG_409p1:p.Ala1178Thr
NC_000006.11:g.129635920G>A
NM_000426.3:c.3532G>A
p.A1178T
p.Ala1178Thr

Protein change:

A1178T

Links:

dbSNP: rs34505698

NCBI 1000 Genomes Browser:

rs34505698

Molecular consequence:

NM_000426.4:c.3532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001079823.2:c.3532G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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
SCV001448974	Knight Diagnostic Laboratories, Oregon Health and Sciences University	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 29, 2019)	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

SCV001448974

Knight Diagnostic Laboratories, Oregon Health and Sciences University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 29, 2019)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448974.1

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

Last Updated: Nov 24, 2024

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