NM_003073.5(SMARCB1):c.1119-167_1119-164del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 23, 2018
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:: RCV001592309.3

Allele description [Variation Report for NM_003073.5(SMARCB1):c.1119-167_1119-164del]

NM_003073.5(SMARCB1):c.1119-167_1119-164del

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.1119-167_1119-164del

HGVS:

NC_000022.11:g.23833974_23833977del
NG_009303.1:g.52012_52015del
NM_001007468.3:c.1092-167_1092-164del
NM_001317946.2:c.1146-167_1146-164del
NM_001362877.2:c.1173-167_1173-164del
NM_003073.5:c.1119-167_1119-164delMANE SELECT
LRG_520:g.52012_52015del
NC_000022.10:g.24176161_24176164del

Links:

dbSNP: rs34796598

NCBI 1000 Genomes Browser:

rs34796598

Molecular consequence:

NM_001007468.3:c.1092-167_1092-164del - intron variant - [Sequence Ontology: SO:0001627]
NM_001317946.2:c.1146-167_1146-164del - intron variant - [Sequence Ontology: SO:0001627]
NM_001362877.2:c.1173-167_1173-164del - intron variant - [Sequence Ontology: SO:0001627]
NM_003073.5:c.1119-167_1119-164del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001823849	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jun 23, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001823849

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jun 23, 2018)

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, SCV001823849.1

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

#	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: Dec 24, 2023

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