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NM_000228.3(LAMB3):c.758_759del (p.His253fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 29, 2022
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:
RCV002309188.2

Allele description [Variation Report for NM_000228.3(LAMB3):c.758_759del (p.His253fs)]

NM_000228.3(LAMB3):c.758_759del (p.His253fs)

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.758_759del (p.His253fs)
HGVS:
  • NC_000001.11:g.209632647_209632648del
  • NG_007116.1:g.24829_24830del
  • NM_000228.3:c.758_759delMANE SELECT
  • NM_001017402.2:c.758_759del
  • NM_001127641.1:c.758_759del
  • NP_000219.2:p.His253fs
  • NP_001017402.1:p.His253fs
  • NP_001121113.1:p.His253fs
  • NC_000001.10:g.209805992_209805993del
Protein change:
H253fs
Molecular consequence:
  • NM_000228.3:c.758_759del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001017402.2:c.758_759del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127641.1:c.758_759del - 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
Name:
Junctional epidermolysis bullosa, non-Herlitz type
Synonyms:
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009180; MedGen: C0268374; Orphanet: 251393; Orphanet: 79402; Orphanet: 79405; Orphanet: 89840; OMIM: 226650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002602997Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 29, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602997.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000228.2(LAMB3):c.758_759delAC(H253Rfs*4) is expected to be pathogenic in the context of junctional epidermolysis bullosa, LAMB3-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in LAMB3, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024