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NM_003073.5(SMARCB1):c.1061A>G (p.Glu354Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 30, 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:
RCV002407840.3

Allele description [Variation Report for NM_003073.5(SMARCB1):c.1061A>G (p.Glu354Gly)]

NM_003073.5(SMARCB1):c.1061A>G (p.Glu354Gly)

Gene:
SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.23
Genomic location:
Preferred name:
NM_003073.5(SMARCB1):c.1061A>G (p.Glu354Gly)
HGVS:
  • NC_000022.11:g.23833646A>G
  • NG_009303.1:g.51684A>G
  • NM_001007468.3:c.1034A>G
  • NM_001317946.2:c.1088A>G
  • NM_001362877.2:c.1115A>G
  • NM_003073.5:c.1061A>GMANE SELECT
  • NP_001007469.1:p.Glu345Gly
  • NP_001304875.1:p.Glu363Gly
  • NP_001349806.1:p.Glu372Gly
  • NP_003064.2:p.Glu354Gly
  • NP_003064.2:p.Glu354Gly
  • LRG_520t1:c.1061A>G
  • LRG_520:g.51684A>G
  • LRG_520p1:p.Glu354Gly
  • NC_000022.10:g.24175833A>G
  • NM_003073.3:c.1061A>G
Protein change:
E345G
Molecular consequence:
  • NM_001007468.3:c.1034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317946.2:c.1088A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362877.2:c.1115A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003073.5:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002714999Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 30, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002714999.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.E354G variant (also known as c.1061A>G), located in coding exon 8 of the SMARCB1 gene, results from an A to G substitution at nucleotide position 1061. The glutamic acid at codon 354 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Missense and in-frame variants in SMARCB1 are known to cause neurodevelopmental disorders; however, such associations with rhabdoid tumor predisposition syndrome are exceedingly rare (Kosho T et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):262-75; Eaton KW et al. Pediatr Blood Cancer. 2011 Jan;56(1):7-15). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024