NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 20, 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:: RCV002555439.3

Allele description [Variation Report for NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter)]

NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter)

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.1594C>T (p.Arg532Ter)

HGVS:

NC_000001.11:g.209626870G>A
NG_007116.1:g.30606C>T
NM_000228.3:c.1594C>TMANE SELECT
NM_001017402.2:c.1594C>T
NM_001127641.1:c.1594C>T
NP_000219.2:p.Arg532Ter
NP_001017402.1:p.Arg532Ter
NP_001121113.1:p.Arg532Ter
NC_000001.10:g.209800215G>A
NC_000001.10:g.209800215G>A
NM_000228.2:c.1594C>T

Protein change:

R532*

Links:

dbSNP: rs757145297

NCBI 1000 Genomes Browser:

rs757145297

Molecular consequence:

NM_000228.3:c.1594C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001017402.2:c.1594C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127641.1:c.1594C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Croton watsonii voucher Dwyer 90 (GH) ribosomal protein S3 (rps3) gene, partial ...
Croton watsonii voucher Dwyer 90 (GH) ribosomal protein S3 (rps3) gene, partial cds; mitochondrial
gi|312232842|gb|HM564204.1|

Nucleotide
NADH dehydrogenase subunit 2, partial (mitochondrion) [Thamnophilus stictocephal...
NADH dehydrogenase subunit 2, partial (mitochondrion) [Thamnophilus stictocephalus]
gi|1811495578|gb|QIC89845.1|

Protein
uncharacterized protein LOC101216293 [Cucumis sativus]
uncharacterized protein LOC101216293 [Cucumis sativus]
gi|778727886|ref|XP_004136058.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003523952	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 20, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11023379, 16473856, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003523952

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 20, 2022)

germline

clinical testing

PubMed (3)
[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

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

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Varki R, Sadowski S, Pfendner E, Uitto J.

J Med Genet. 2006 Aug;43(8):641-52. Epub 2006 Feb 10.

PubMed [citation]

PMID:: 16473856
PMCID:: PMC2564586

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003523952.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 917773). This premature translational stop signal has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 16473856). This variant is present in population databases (rs757145297, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg532*) 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: Nov 3, 2024

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