NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 14, 2023
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:: RCV002513066.2

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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TMEM86B [Pseudonaja textilis]
TMEM86B [Pseudonaja textilis]
Gene ID:113443628

Gene
Gene Links for GEO Profiles (Select 116336816) (1)
Gene
BANF1 barrier to autointegration nuclear assembly factor 1 [Homo sapiens]
BANF1 barrier to autointegration nuclear assembly factor 1 [Homo sapiens]
Gene ID:8815

Gene
Gene Links for GEO Profiles (Select 116354979) (1)
Gene
KIF1C kinesin family member 1C [Homo sapiens]
KIF1C kinesin family member 1C [Homo sapiens]
Gene ID:10749

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003524029	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 14, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11689492, 11023379, 16473856, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003524029

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 14, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.

Nakano A, Pfendner E, Hashimoto I, Uitto J.

J Invest Dermatol. 2000 Sep;115(3):493-8.

PubMed [citation]

PMID:: 11023379

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV003524029.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 14548). This variant is also known as 1587delAG. This premature translational stop signal has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 11689492). This variant is present in population databases (rs769151482, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gly530Metfs*5) in the LAMB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB3 are known to be pathogenic (PMID: 11023379, 16473856).

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

Last Updated: Jun 9, 2024

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