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NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter) AND Familial meningioma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 5, 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:
RCV001983042.3

Allele description [Variation Report for NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter)]

NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter)

Gene:
SMARCE1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter)
HGVS:
  • NC_000017.11:g.40636436C>A
  • NG_032163.1:g.16416G>T
  • NM_003079.5:c.328G>TMANE SELECT
  • NP_003070.3:p.Glu110Ter
  • NC_000017.10:g.38792688C>A
  • NM_003079.4:c.328G>T
Protein change:
E110*
Links:
dbSNP: rs2143997316
NCBI 1000 Genomes Browser:
rs2143997316
Molecular consequence:
  • NM_003079.5:c.328G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial meningioma
Synonyms:
Meningioma, familial, susceptibility to
Identifiers:
MONDO: MONDO:0011789; MedGen: C3551915; Orphanet: 263662; OMIM: 607174

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002244584Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 5, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Smith MJ, O'Sullivan J, Bhaskar SS, Hadfield KD, Poke G, Caird J, Sharif S, Eccles D, Fitzpatrick D, Rawluk D, du Plessis D, Newman WG, Evans DG.

Nat Genet. 2013 Mar;45(3):295-8. doi: 10.1038/ng.2552. Epub 2013 Feb 3.

PubMed [citation]
PMID:
23377182

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002244584.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu110*) in the SMARCE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMARCE1 are known to be pathogenic (PMID: 23377182).

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

Last Updated: Feb 20, 2024