NM_000251.3(MSH2):c.2005+2dup AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Jul 3, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000491289.2

Allele description [Variation Report for NM_000251.3(MSH2):c.2005+2dup]

NM_000251.3(MSH2):c.2005+2dup

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.2005+2dup
HGVS:
  • NC_000002.12:g.47475272dup
  • NG_007110.2:g.77149dup
  • NM_000251.2:c.2005+2dup
  • NM_000251.3:c.2005+2dupMANE SELECT
  • NM_001258281.1:c.1807+2dup
  • LRG_218t1:c.2005+2dup
  • LRG_218:g.77149dup
  • NC_000002.11:g.47702410_47702411insT
  • NC_000002.11:g.47702411dup
  • NM_000251.1:c.2005+2dupT
  • NM_000251.2:c.2005+2dupT
Links:
dbSNP: rs541623924
NCBI 1000 Genomes Browser:
rs541623924
Molecular consequence:
  • NM_000251.2:c.2005+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000251.3:c.2005+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258281.1:c.1807+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000580506Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jul 3, 2019)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

High Prevalence of Hereditary Cancer Syndromes and Outcomes in Adults with Early-Onset Pancreatic Cancer.

Bannon SA, Montiel MF, Goldstein JB, Dong W, Mork ME, Borras E, Hasanov M, Varadhachary GR, Maitra A, Katz MH, Feng L, Futreal A, Fogelman DR, Vilar E, McAllister F.

Cancer Prev Res (Phila). 2018 Nov;11(11):679-686. doi: 10.1158/1940-6207.CAPR-18-0014. Epub 2018 Oct 1.

PubMed [citation]
PMID:
30274973
PMCID:
PMC6343472

Details of each submission

From Ambry Genetics, SCV000580506.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.2005+2dupT intronic variant, results from a duplication of one nucleotide two nucleotides after coding exon 12 of the MSH2 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site. Results of RNA studies were inconclusive for this alteration in the set of samples tested and further analysis is needed (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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