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NM_198129.4(LAMA3):c.8177+2T>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 17, 2020
Accession:
VCV000189152.2
Variation ID:
189152
Description:
single nucleotide variant
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NM_198129.4(LAMA3):c.8177+2T>G

Allele ID
187032
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q11.2
Genomic location
18: 23921587 (GRCh38) GRCh38 UCSC
18: 21501551 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.9:g.21501551T>G
NC_000018.10:g.23921587T>G
NG_007853.2:g.236990T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:23921586:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA274429
dbSNP: rs786204732
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 23, 2015 RCV000169576.1
Likely pathogenic 1 criteria provided, single submitter Mar 17, 2020 RCV001377831.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LAMA3 - - GRCh38
GRCh37
776 815

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 23, 2015)
criteria provided, single submitter
Method: literature only
Junctional epidermolysis bullosa gravis of Herlitz
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000221078.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Mar 17, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001575266.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change affects a donor splice site in intron 25 of the LAMA3 gene. It is expected to disrupt RNA splicing and likely results … (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
Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. Yenamandra VK Journal of dermatological science 2017 PMID: 28087116
A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome. Barzegar M The British journal of dermatology 2013 PMID: 23869449
Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. Figueira EC Clinical & experimental ophthalmology 2007 PMID: 17362460
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. Varki R Journal of medical genetics 2006 PMID: 16473856
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. McLean WH Human molecular genetics 2003 PMID: 12915477
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Nakano A Human genetics 2002 PMID: 11810295
Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. Ryan MC The Journal of cell biology 1999 PMID: 10366601

Text-mined citations for rs786204732...

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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