NM_003073.5(SMARCB1):c.1129_1134del (p.Arg377_Leu378del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2021
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:: RCV002325863.2

Allele description [Variation Report for NM_003073.5(SMARCB1):c.1129_1134del (p.Arg377_Leu378del)]

NM_003073.5(SMARCB1):c.1129_1134del (p.Arg377_Leu378del)

Gene:

SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q11.23

Genomic location:

Preferred name:

NM_003073.5(SMARCB1):c.1129_1134del (p.Arg377_Leu378del)

HGVS:

NC_000022.11:g.23834151_23834156del
NG_009303.1:g.52189_52194del
NM_001007468.3:c.1102_1107del
NM_001317946.2:c.1156_1161del
NM_001362877.2:c.1183_1188del
NM_003073.5:c.1129_1134delMANE SELECT
NP_001007469.1:p.Arg368_Leu369del
NP_001304875.1:p.Arg386_Leu387del
NP_001349806.1:p.Arg395_Leu396del
NP_003064.2:p.Arg377_Leu378del
NP_003064.2:p.Arg377_Leu378del
LRG_520t1:c.1129_1134del
LRG_520:g.52189_52194del
LRG_520p1:p.Arg377_Leu378del
NC_000022.10:g.24176338_24176343del
NM_003073.3:c.1129_1134delCGTCTT

Molecular consequence:

NM_001007468.3:c.1102_1107del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001317946.2:c.1156_1161del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001362877.2:c.1183_1188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003073.5:c.1129_1134del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002608191	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 30, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002608191

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 30, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002608191.2

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

Description

The c.1129_1134delCGTCTT variant (also known as p.R377_L378del) is located in coding exon 9 of the SMARCB1 gene. This variant results from an in-frame CGTCTT deletion at nucleotide positions 1129 to 1134. This results in the in-frame deletion of an arginine at codon 377 and a leucine at codon 378. This region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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