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NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 29, 2024
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:
RCV000491337.3

Allele description [Variation Report for NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)]

NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)
HGVS:
  • NC_000002.12:g.47478361C>G
  • NG_007110.2:g.80238C>G
  • NM_000251.3:c.2300C>GMANE SELECT
  • NM_001258281.1:c.2102C>G
  • NP_000242.1:p.Ser767Ter
  • NP_000242.1:p.Ser767Ter
  • NP_001245210.1:p.Ser701Ter
  • LRG_218t1:c.2300C>G
  • LRG_218:g.80238C>G
  • LRG_218p1:p.Ser767Ter
  • NC_000002.11:g.47705500C>G
  • NM_000251.1:c.2300C>G
  • NM_000251.2:c.2300C>G
Protein change:
S701*
Links:
dbSNP: rs863225395
NCBI 1000 Genomes Browser:
rs863225395
Molecular consequence:
  • NM_000251.3:c.2300C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258281.1:c.2102C>G - nonsense - [Sequence Ontology: SO:0001587]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000580486Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Jan 29, 2024)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients.

Ponti G, Pellacani G, Ruini C, Percesepe A, Longo C, Mandel VD, Crucianelli F, Gorelli G, Tomasi A.

Fam Cancer. 2014 Dec;13(4):553-61. doi: 10.1007/s10689-014-9733-4.

PubMed [citation]
PMID:
24969397

Details of each submission

From Ambry Genetics, SCV000580486.6

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

Description

The p.S767* pathogenic mutation (also known as c.2300C>G), located in coding exon 14 of the MSH2 gene, results from a C to G substitution at nucleotide position 2300. This changes the amino acid from a serine to a stop codon within coding exon 14. This alteration has been reported in a patient with the Muir-Torre syndrome variant of Lynch syndrome who was diagnosed with right-sided colon cancer at age 48 and a sebaceous adenoma of the head at age 52 with a family history of colon cancer diagnosed in two family members at ages 46 and 44 years (Ponti G et al. Fam. Cancer. 2014 Dec; 13(4):553-61). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024