NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) AND Junctional epidermolysis bullosa gravis of Herlitz

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 26, 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:: RCV000015649.27

Allele description [Variation Report for NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)]

NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q32.2

Genomic location:

Preferred name:

NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)

HGVS:

NC_000001.11:g.209626876_209626877del
NG_007116.1:g.30599_30600del
NM_000228.3:c.1587_1588delMANE SELECT
NM_001017402.2:c.1587_1588del
NM_001127641.1:c.1587_1588del
NP_000219.2:p.Gly530fs
NP_001017402.1:p.Gly530fs
NP_001121113.1:p.Gly530fs
NC_000001.10:g.209800221_209800222del
NM_000228.2:c.1587_1588delAG

Note:

NCBI staff reviewed the sequence information reported in PubMed 11689492 Fig. 2A to determine the location of this allele on the current reference sequence.

Protein change:

G530fs

Links:

OMIM: 150310.0011; dbSNP: rs769151482

NCBI 1000 Genomes Browser:

rs769151482

Molecular consequence:

NM_000228.3:c.1587_1588del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001017402.2:c.1587_1588del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127641.1:c.1587_1588del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035914	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000789317	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Pathogenic (Jan 26, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24947307, 11689492 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035914

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2001)

germline

literature only

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

SCV000789317

Counsyl

criteria provided, single submitter

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

Pathogenic
(Jan 26, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA, McGrath JA.

Br J Dermatol. 2015 Jan;172(1):94-100. doi: 10.1111/bjd.13190. Epub 2014 Nov 19.

PubMed [citation]

PMID:: 24947307

Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.

Gache Y, Allegra M, Bodemer C, Pisani-Spadafora A, de Prost Y, Ortonne JP, Meneguzzi G.

Hum Mol Genet. 2001 Oct 1;10(21):2453-61.

PubMed [citation]

PMID:: 11689492

Details of each submission

From OMIM, SCV000035914.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with severe junctional epidermolysis bullosa (JEB1B; 226700) at birth, Gache et al. (2001) found a heterozygous A-to-G deletion at position 1587 of exon 13. This 1587delAG deletion led to a shift of the reading frame and resulted in a downstream premature termination codon in exon 14. This mutation was in compound heterozygous state with the R635X (150310.0001) mutation.

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

From Counsyl, SCV000789317.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine