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NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000092959.6
Variation ID:
92959
Description:
single nucleotide variant
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NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=)

Allele ID
98866
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.33
Genomic location
6: 129349331 (GRCh38) GRCh38 UCSC
6: 129670476 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_409:g.471191C>T
NC_000006.11:g.129670476C>T
NM_000426.3:c.4470C>T NP_000417.2:p.Asp1490= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:129349330:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00300 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00557
Exome Aggregation Consortium (ExAC) 0.00544
1000 Genomes Project 0.00300
The Genome Aggregation Database (gnomAD) 0.00497
Trans-Omics for Precision Medicine (TOPMed) 0.00571
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00684
Links
ClinGen: CA146123
dbSNP: rs35089085
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Feb 26, 2020 RCV000078770.8
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV000537795.5
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001152675.1
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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
2291 2307

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 17, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110630.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000304154.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Dec 08, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000516592.4
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)
Likely 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: SCV001313900.1
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)
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Laminin alpha 2-related dystrophy
Allele origin: germline
Invitae
Accession: SCV000658686.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Feb 26, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475946.1
Submitted: (Dec 30, 2020)
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 rs35089085...

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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 Oct 30, 2021