NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys) AND Carcinoma of colon

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000504395.2

Allele description [Variation Report for NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys)]

NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys)

HGVS:

NC_000002.12:g.47478327_47478328insAGA
NG_007110.2:g.80204_80205insAGA
NM_000251.3:c.2266_2267insAGAMANE SELECT
NM_001258281.1:c.2068_2069insAGA
NP_000242.1:p.Ser755_Thr756insLys
NP_000242.1:p.Thr756_Tyr757insLys
NP_001245210.1:p.Ser689_Thr690insLys
LRG_218t1:c.2266_2267insAGA
LRG_218:g.80204_80205insAGA
LRG_218p1:p.Thr756_Tyr757insLys
NC_000002.11:g.47705466_47705467insAGA
NM_000251.1:c.2266_2267insAGA
NM_000251.2:c.2266_2267insAGA

Links:

dbSNP: rs1553369686

NCBI 1000 Genomes Browser:

rs1553369686

Molecular consequence:

NM_000251.3:c.2266_2267insAGA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001258281.1:c.2068_2069insAGA - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Carcinoma of colon (CRC)
Synonyms:: Colonic carcinoma; Colon carcinoma
Identifiers:: MONDO: MONDO:0002032; MedGen: C0699790

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000592547	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000592547

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Uncertain significance

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592547.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The MSH2 p.Ser755_Thr756insLys variant was not identified in the literature nor was it identified in the in dbSNP, 1000 Genomes Project, NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium database (August 8, 2016), Clinvitae, COSMIC, Mismatch Repair Genes Variant, MMR Gene Unclassified Variants, InSiGHT Colon Cancer Gene Variant (LOVD), Zhejiang Colon Cancer Database (LOVD), ClinVar database, GeneInsight - COGR database, and UMD databases. The variant occurs outside of the splicing consensus sequence and 4 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. This variant is an in-frame insertion resulting in the addition of Lys residue at codon 755_756; the impact of this alteration on MSH2 protein function is not known. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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