Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000426.4(LAMA2):c.1701C>T (p.Ile567=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000193991.7
Variation ID:
193991
Description:
single nucleotide variant
Help

NM_000426.4(LAMA2):c.1701C>T (p.Ile567=)

Allele ID
191154
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.33
Genomic location
6: 129192772 (GRCh38) GRCh38 UCSC
6: 129513917 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.129192772C>T
NG_008678.1:g.314632C>T
NM_000426.4:c.1701C>T MANE Select NP_000417.3:p.Ile567= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:129192771:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00539 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00199
1000 Genomes Project 0.00539
The Genome Aggregation Database (gnomAD) 0.00586
Trans-Omics for Precision Medicine (TOPMed) 0.00629
The Genome Aggregation Database (gnomAD), exomes 0.00174
The Genome Aggregation Database (gnomAD) 0.00641
Trans-Omics for Precision Medicine (TOPMed) 0.00651
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00707
Links
ClinGen: CA200898
dbSNP: rs111381107
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 5 criteria provided, multiple submitters, no conflicts Mar 13, 2018 RCV000174245.6
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000373639.2
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000524657.5
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 15, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000225514.5
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: SCV000304124.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 13, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000528857.4
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 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: SCV000460005.3
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)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Laminin alpha 2-related dystrophy
Allele origin: germline
Invitae
Accession: SCV000658634.5
Submitted: (Jan 07, 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: SCV001956541.1
Submitted: (Sep 30, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001966082.1
Submitted: (Sep 21, 2021)
Evidence details

Functional evidence

Help
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

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

Text-mined citations for rs111381107...

Help
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