NM_198129.4(LAMA3):c.1273+26_1273+41del AND Epidermolysis bullosa, junctional 2A, intermediate

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2024
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:: RCV004576143.1

Allele description [Variation Report for NM_198129.4(LAMA3):c.1273+26_1273+41del]

NM_198129.4(LAMA3):c.1273+26_1273+41del

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.1273+26_1273+41del

HGVS:

NC_000018.10:g.23773613_23773628del
NG_007853.2:g.89016_89031del
NM_001127717.4:c.1273+26_1273+41del
NM_001302996.2:c.1299_1314del
NM_198129.4:c.1273+26_1273+41delMANE SELECT
NP_001289925.1:p.Leu434fs
NC_000018.9:g.21353577_21353592del

Protein change:

L434fs

Molecular consequence:

NM_001302996.2:c.1299_1314del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127717.4:c.1273+26_1273+41del - intron variant - [Sequence Ontology: SO:0001627]
NM_198129.4:c.1273+26_1273+41del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Epidermolysis bullosa, junctional 2A, intermediate
Synonyms:: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, GENERALIZED INTERMEDIATE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE
Identifiers:: MONDO: MONDO:0030746; MedGen: C5676936; OMIM: 619783

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
SCV005051845	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 1, 2024)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005051845

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 1, 2024)

germline

curation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV005051845.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

ClinVar

Relating variation to medicine