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NM_000251.3(MSH2):c.141_154del (p.Glu48fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 9, 2022
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:
RCV002390531.2

Allele description [Variation Report for NM_000251.3(MSH2):c.141_154del (p.Glu48fs)]

NM_000251.3(MSH2):c.141_154del (p.Glu48fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.141_154del (p.Glu48fs)
HGVS:
  • NC_000002.12:g.47403332_47403345del
  • NG_007110.2:g.5209_5222del
  • NM_000251.3:c.141_154delMANE SELECT
  • NM_001258281.1:c.-30-28_-30-15del
  • NP_000242.1:p.Glu48fs
  • LRG_218:g.5209_5222del
  • NC_000002.11:g.47630471_47630484del
  • NC_000002.11:g.47630471_47630484delCGAGGACGCGCTGC
  • NM_000251.1:c.141_154delCGAGGACGCGCTGC
  • NM_000251.2:c.141_154delCGAGGACGCGCTGC
Protein change:
E48fs
Links:
dbSNP: rs863224481
NCBI 1000 Genomes Browser:
rs863224481
Molecular consequence:
  • NM_000251.3:c.141_154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258281.1:c.-30-28_-30-15del - intron variant - [Sequence Ontology: SO:0001627]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002701749Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 9, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.

Narang A, Uppilli B, Vivekanand A, Naushin S, Yadav A, Singhal K, Shamim U, Sharma P, Zahra S, Mathur A, Seth M, Parveen S, Vats A, Hillman S, Dolma P, Varma B, Jain V; TRISUTRA Ayurgenomics Consortium., Prasher B, Sengupta S, Mukerji M, Faruq M.

Hum Mutat. 2020 Nov;41(11):1833-1847. doi: 10.1002/humu.24102. Epub 2020 Sep 9.

PubMed [citation]
PMID:
32906206

Details of each submission

From Ambry Genetics, SCV002701749.2

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

Description

The c.141_154delCGAGGACGCGCTGC pathogenic mutation, located in coding exon 1 of the MSH2 gene, results from a deletion of 14 nucleotides at nucleotide positions 141 to 154, causing a translational frameshift with a predicted alternate stop codon (p.E48Gfs*29). 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