NM_000251.3(MSH2):c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA (p.Phe58fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 27, 2021
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:: RCV002255877.2

Allele description [Variation Report for NM_000251.3(MSH2):c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA (p.Phe58fs)]

NM_000251.3(MSH2):c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA (p.Phe58fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA (p.Phe58fs)

HGVS:

NC_000002.12:g.47403361_47403362insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA
NG_007110.2:g.5238_5239insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA
NM_000251.3:c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCAMANE SELECT
NM_001258281.1:c.-29_-28insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA
NP_000242.1:p.Phe58fs
LRG_218t1:c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA
LRG_218:g.5238_5239insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA
NC_000002.11:g.47630500_47630501insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA
NM_000251.2:c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA

Protein change:

F58fs

Links:

dbSNP: rs2103879195

NCBI 1000 Genomes Browser:

rs2103879195

Molecular consequence:

NM_001258281.1:c.-29_-28insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000251.3:c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002534399	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Likely pathogenic (Apr 27, 2021)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002534399

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Likely pathogenic
(Apr 27, 2021)

germline

curation

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	curation

Details of each submission

From Sema4, Sema4, SCV002534399.1

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

#	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 7, 2024

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