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NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs) AND Glioblastoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 26, 2017
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:
RCV000722035.2

Allele description [Variation Report for NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs)]

NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs)
HGVS:
  • NC_000002.12:g.47475223_47475230del
  • NG_007110.2:g.77100_77107del
  • NM_000251.3:c.1958_1965delMANE SELECT
  • NM_001258281.1:c.1760_1767del
  • NP_000242.1:p.Asn653fs
  • NP_001245210.1:p.Asn587fs
  • LRG_218:g.77100_77107del
  • NC_000002.11:g.47702362_47702369del
  • NM_000251.2:c.1958_1965delATGACGTA
Protein change:
N587fs
Links:
dbSNP: rs1558518449
NCBI 1000 Genomes Browser:
rs1558518449
Molecular consequence:
  • NM_000251.3:c.1958_1965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258281.1:c.1760_1767del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Glioblastoma
Synonyms:
Giant cell glioblastoma (histologic variant); Gliosarcoma (histologic variant)
Identifiers:
MONDO: MONDO:0018177; MeSH: D005909; MedGen: C0017636

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000853212St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 26, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV000853212.1

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

Description

This is a frameshift alteration in which 8 nucleotides are deleted at coding nucleotides 1958 through 1965. This is predicted to change a Asparagine to a Isoleucine at amino acid codon 653, shift the reading frame and result in a premature stop codon 3 amino acids downstream. Classification criteria: PVS1, PP4.

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

Last Updated: Mar 26, 2023