U.S. flag

An official website of the United States government

NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign/Likely benign (4 submissions)
Last evaluated:
Jan 4, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000115523.16

Allele description [Variation Report for NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)]

NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)
HGVS:
  • NC_000002.12:g.47408462TCT[2]
  • NG_007110.2:g.10339TCT[2]
  • NM_000251.3:c.273TCT[2]MANE SELECT
  • NM_001258281.1:c.75TCT[2]
  • NP_000242.1:p.Leu94del
  • NP_001245210.1:p.Leu28del
  • LRG_218:g.10339TCT[2]
  • NC_000002.11:g.47635601TCT[2]
  • NC_000002.11:g.47635601_47635603del
  • NM_000251.1:c.279_281del
  • NM_000251.1:c.279_281delTCT
  • NM_000251.2:c.279_281delTCT
  • NM_000251.3:c.279_281delMANE SELECT
  • NM_000251.3:c.279_281delTCTMANE SELECT
  • p.L94del
Protein change:
L28del
Links:
dbSNP: rs267607919
NCBI 1000 Genomes Browser:
rs267607919
Molecular consequence:
  • NM_000251.3:c.273TCT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001258281.1:c.75TCT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186646Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 12, 2018) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV000685074Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Dec 14, 2021) 		germlineclinical testing

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

SCV002534504Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(Jun 17, 2021) 		germlinecuration

Citation Link,

SCV004228077Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jan 4, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1.

Wahlberg S, Liu T, Lindblom P, Lindblom A.

Genet Test. 1999;3(3):259-64.

PubMed [citation]
PMID:
10495924

Screening families with endometrial and colorectal cancers for germline mutations.

Liu T, Chen J, Salahshor S, Kuismanen S, Holmberg E, Grönberg H, Peltomäki P, Lindblom A.

J Med Genet. 2001 Sep;38(9):E29. No abstract available.

PubMed [citation]
PMID:
11546830
PMCID:
PMC1734941
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000186646.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

From Color Diagnostics, LLC DBA Color Health, SCV000685074.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Sema4, Sema4, SCV002534504.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV004228077.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024