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NM_000426.4(LAMA2):c.8548-10T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000092991.9
Variation ID:
92991
Description:
single nucleotide variant
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NM_000426.4(LAMA2):c.8548-10T>C

Allele ID
98898
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.33
Genomic location
6: 129505190 (GRCh38) GRCh38 UCSC
6: 129826335 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_409:g.627050T>C
LRG_409t1:c.8548-10T>C
NC_000006.11:g.129826335T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:129505189:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00359 (C)

Allele frequency
1000 Genomes Project 0.00359
The Genome Aggregation Database (gnomAD) 0.00796
The Genome Aggregation Database (gnomAD) 0.00865
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00923
The Genome Aggregation Database (gnomAD), exomes 0.00857
Exome Aggregation Consortium (ExAC) 0.00879
Trans-Omics for Precision Medicine (TOPMed) 0.00844
Trans-Omics for Precision Medicine (TOPMed) 0.00851
Links
ClinGen: CA146160
dbSNP: rs113644365
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 6 criteria provided, multiple submitters, no conflicts Mar 4, 2016 RCV000078804.13
Benign 1 criteria provided, single submitter Dec 19, 2017 RCV000712197.4
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001082462.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV001155136.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LAMA2 - - GRCh38
GRCh37
2312 2328

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000304192.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 04, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000523546.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Nov 05, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110664.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Laminin alpha 2-related dystrophy
Allele origin: germline
Invitae
Accession: SCV000658785.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Dec 19, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842631.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital muscular dystrophy due to partial LAMA2 deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001316545.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000151670.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001920017.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001956661.1
Submitted: (Sep 30, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=LAMA2 - - - -

Text-mined citations for rs113644365...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021