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NM_005562.3(LAMC2):c.-6C>A AND Junctional epidermolysis bullosa gravis of Herlitz

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 8, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001537694.2

Allele description [Variation Report for NM_005562.3(LAMC2):c.-6C>A]

NM_005562.3(LAMC2):c.-6C>A

Genes:
LOC126805948:MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 [Gene]
LAMC2:laminin subunit gamma 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.3
Genomic location:
Preferred name:
NM_005562.3(LAMC2):c.-6C>A
HGVS:
  • NC_000001.11:g.183186347C>A
  • NG_007079.2:g.5084C>A
  • NM_005562.3:c.-6C>AMANE SELECT
  • NM_018891.3:c.-6C>A
  • NC_000001.10:g.183155482C>A
  • NM_005562.2:c.-6C>A
Links:
dbSNP: rs684527
NCBI 1000 Genomes Browser:
rs684527
Molecular consequence:
  • NM_005562.3:c.-6C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_018891.3:c.-6C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Junctional epidermolysis bullosa gravis of Herlitz
Synonyms:
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE; JEB-HERLITZ TYPE; Epidermolysis bullosa, junctional, Herlitz-Pearson type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009182; MedGen: C0079683; Orphanet: 79404; OMIM: 226700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001754638Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jul 8, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001754638.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024