NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter) AND Junctional epidermolysis bullosa gravis of Herlitz

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 28, 2016
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:: RCV000409210.2

Allele description [Variation Report for NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter)]

NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter)

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.870T>A (p.Cys290Ter)

HGVS:

NC_000001.11:g.209630688A>T
NG_007116.1:g.26788T>A
NM_000228.3:c.870T>AMANE SELECT
NM_001017402.2:c.870T>A
NM_001127641.1:c.870T>A
NP_000219.2:p.Cys290Ter
NP_001017402.1:p.Cys290Ter
NP_001121113.1:p.Cys290Ter
NC_000001.10:g.209804033A>T
NM_000228.2:c.870T>A

Protein change:

C290*

Links:

dbSNP: rs1057516809

NCBI 1000 Genomes Browser:

rs1057516809

Molecular consequence:

NM_000228.3:c.870T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001017402.2:c.870T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127641.1:c.870T>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000486258	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Apr 28, 2016)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25525159, 9242513 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000486258

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Apr 28, 2016)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]

PMID:: 25525159
PMCID:: PMC4362528

Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.

Pulkkinen L, Meneguzzi G, McGrath JA, Xu Y, Blanchet-Bardon C, Ortonne JP, Christiano AM, Uitto J.

J Invest Dermatol. 1997 Aug;109(2):232-7.

PubMed [citation]

PMID:: 9242513

Details of each submission

From Counsyl, SCV000486258.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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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