NM_000251.3(MSH2):c.2634+8del AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 23, 2017
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:: RCV000487044.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2634+8del]

NM_000251.3(MSH2):c.2634+8del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2634+8del

HGVS:

NC_000002.12:g.47480879del
NG_007110.2:g.82756del
NM_000251.3:c.2634+8delMANE SELECT
NM_001258281.1:c.2436+8del
LRG_218:g.82756del
NC_000002.11:g.47708018del
NM_000251.2:c.2634+8delA

Links:

dbSNP: rs1064794655

NCBI 1000 Genomes Browser:

rs1064794655

Molecular consequence:

NM_000251.3:c.2634+8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258281.1:c.2436+8del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569660	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Feb 23, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569660

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Feb 23, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000569660.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Mar 26, 2023

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Relating variation to medicine