NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 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:: RCV002472954.1

Allele description [Variation Report for NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)]

NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)

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.3446_3453del (p.Gly1149fs)

HGVS:

NC_000001.11:g.209615339_209615346del
NG_007116.1:g.42132_42139del
NM_000228.3:c.3446_3453delMANE SELECT
NM_001017402.2:c.3446_3453del
NM_001127641.1:c.3446_3453del
NP_000219.2:p.Gly1149fs
NP_001017402.1:p.Gly1149fs
NP_001121113.1:p.Gly1149fs
NC_000001.10:g.209788684_209788691del
NM_000228.2:c.3446_3453del
NM_000228.2:c.3446_3453delGACTGGAG

Protein change:

G1149fs

Links:

OMIM: 150310.0017; dbSNP: rs1553275034

NCBI 1000 Genomes Browser:

rs1553275034

Molecular consequence:

NM_000228.3:c.3446_3453del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001017402.2:c.3446_3453del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127641.1:c.3446_3453del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002770221	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002770221

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jun 20, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002770221.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Frameshift variant predicted to result in protein truncation, as the last 24 amino acids are replaced with 7 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23958762)

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

Last Updated: Feb 7, 2023

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