NM_000228.3(LAMB3):c.714C>A (p.Tyr238Ter) AND Junctional epidermolysis bullosa gravis of Herlitz

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 27, 2019
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:: RCV001264112.4

Allele description [Variation Report for NM_000228.3(LAMB3):c.714C>A (p.Tyr238Ter)]

NM_000228.3(LAMB3):c.714C>A (p.Tyr238Ter)

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.714C>A (p.Tyr238Ter)

HGVS:

NC_000001.11:g.209632691G>T
NG_007116.1:g.24785C>A
NM_000228.3:c.714C>AMANE SELECT
NM_001017402.2:c.714C>A
NM_001127641.1:c.714C>A
NP_000219.2:p.Tyr238Ter
NP_001017402.1:p.Tyr238Ter
NP_001121113.1:p.Tyr238Ter
NC_000001.10:g.209806036G>T

Protein change:

Y238*

Links:

dbSNP: rs1666736220

NCBI 1000 Genomes Browser:

rs1666736220

Molecular consequence:

NM_000228.3:c.714C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001017402.2:c.714C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127641.1:c.714C>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
SCV001442212	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (Nov 27, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001442212

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(Nov 27, 2019)

unknown

clinical testing

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

Details of each submission

From Myriad Genetics, Inc., SCV001442212.1

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

#	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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