NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 31, 2020
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:: RCV000573846.4

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:: 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000676098	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 31, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000676098

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 31, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000676098.5

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

Description

The c.2266_2267insAGA variant (also known as p.S755_T756insK), located in coding exon 14 of the MSH2 gene, results from an in-frame AGA insertion at nucleotide positions 2266 to 2267. This results in the insertion of an extra lysine residue between codons 755 and 756. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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