NM_198129.4(LAMA3):c.938del (p.Pro313fs) AND Junctional epidermolysis bullosa gravis of Herlitz

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 6, 2018
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:: RCV000673968.10

Allele description [Variation Report for NM_198129.4(LAMA3):c.938del (p.Pro313fs)]

NM_198129.4(LAMA3):c.938del (p.Pro313fs)

Gene:

LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_198129.4(LAMA3):c.938del (p.Pro313fs)

HGVS:

NC_000018.10:g.23753803del
NG_007853.2:g.69206del
NM_001127717.4:c.938del
NM_001302996.2:c.938del
NM_198129.4:c.938delMANE SELECT
NP_001121189.2:p.Pro313fs
NP_001289925.1:p.Pro313fs
NP_937762.2:p.Pro313fs
NC_000018.9:g.21333767del
NM_000227.3:c.-119243delC
NR_130106.2:n.1169del

Protein change:

P313fs

Links:

dbSNP: rs1555684952

NCBI 1000 Genomes Browser:

rs1555684952

Molecular consequence:

NM_001127717.4:c.938del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001302996.2:c.938del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198129.4:c.938del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_130106.2:n.1169del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000799232	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Apr 6, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799232

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Apr 6, 2018)

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 Counsyl, SCV000799232.1

#	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: Apr 15, 2024

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