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NM_000426.4(LAMA2):c.3556-15T>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000092953.2
Variation ID:
92953
Description:
single nucleotide variant
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NM_000426.4(LAMA2):c.3556-15T>G

Allele ID
98860
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.33
Genomic location
6: 129315461 (GRCh38) GRCh38 UCSC
6: 129636606 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_409:g.437321T>G
LRG_409t1:c.3556-15T>G
NC_000006.11:g.129636606T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:129315460:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00819 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00369
The Genome Aggregation Database (gnomAD) 0.00446
The Genome Aggregation Database (gnomAD), exomes 0.00787
The Genome Aggregation Database (gnomAD) 0.00414
1000 Genomes Project 0.00819
Trans-Omics for Precision Medicine (TOPMed) 0.00362
Exome Aggregation Consortium (ExAC) 0.00923
Trans-Omics for Precision Medicine (TOPMed) 0.00335
Links
ClinGen: CA146118
dbSNP: rs17741922
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 3 criteria provided, multiple submitters, no conflicts Mar 14, 2016 RCV000078763.7
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000351176.2
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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: SCV000304146.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 14, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000524135.4
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
(Jun 18, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110623.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 13, 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: SCV000460030.3
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)

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 rs17741922...

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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