NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) AND Junctional epidermolysis bullosa gravis of Herlitz

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 7, 2017
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:: RCV000675069.1

Allele description [Variation Report for NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)]

NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)

Gene:

LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.2

Genomic location:

Preferred name:

NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)

HGVS:

NC_000001.11:g.209633102C>G
NG_007116.1:g.24374G>C
NM_000228.3:c.596G>CMANE SELECT
NM_001017402.2:c.596G>C
NM_001127641.1:c.596G>C
NP_000219.2:p.Gly199Ala
NP_001017402.1:p.Gly199Ala
NP_001121113.1:p.Gly199Ala
NC_000001.10:g.209806447C>G
NM_000228.2:c.596G>C
Q13751:p.Gly199Ala

Protein change:

G199A; GLY199ALA

Links:

UniProtKB: Q13751#VAR_037310; OMIM: 150310.0013; dbSNP: rs121912486

NCBI 1000 Genomes Browser:

rs121912486

Molecular consequence:

NM_000228.3:c.596G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001017402.2:c.596G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127641.1:c.596G>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800546	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jun 7, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800546

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jun 7, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.

Pasmooij AM, Pas HH, Bolling MC, Jonkman MF.

J Clin Invest. 2007 May;117(5):1240-8.

PubMed [citation]

PMID:: 17476356
PMCID:: PMC1857245

Details of each submission

From Counsyl, SCV000800546.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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