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NM_198129.4(LAMA3):c.5049del (p.Cys1684fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Apr 5, 2016
Accession:
VCV000370752.1
Variation ID:
370752
Description:
1bp deletion
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NM_198129.4(LAMA3):c.5049del (p.Cys1684fs)

Allele ID
358548
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
18q11.2
Genomic location
18: 23876343 (GRCh38) GRCh38 UCSC
18: 21456307 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.23876344del
NC_000018.9:g.21456308del
NG_007853.2:g.191747del
... more HGVS
Protein change
C1684fs, C75fs
Other names
-
Canonical SPDI
NC_000018.10:23876342:GG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA8915872
dbSNP: rs752030611
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 Apr 5, 2016 RCV000412059.1
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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
776 814

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 05, 2016)
criteria provided, single submitter
Method: clinical testing
Junctional epidermolysis bullosa gravis of Herlitz
Allele origin: unknown
Counsyl
Accession: SCV000486146.1
Submitted: (Nov 23, 2016)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs752030611...

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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