NM_000251.3(MSH2):c.942+21_942+29del AND Hereditary cancer-predisposing syndrome

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Aug 18, 2022
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:: RCV002257141.2

Allele description [Variation Report for NM_000251.3(MSH2):c.942+21_942+29del]

NM_000251.3(MSH2):c.942+21_942+29del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.942+21_942+29del

HGVS:

NC_000002.12:g.47414439_47414447del
NG_007110.2:g.16316_16324del
NM_000251.3:c.942+21_942+29delMANE SELECT
NM_001258281.1:c.744+21_744+29del
LRG_218t1:c.942+3_942+11del
LRG_218:g.16316_16324del
NC_000002.11:g.47641578_47641586del
NM_000251.2:c.942+3_942+11delAAAAAAAAA
NM_000251.3:c.942+21_942+29delAAAAAAAAAMANE SELECT

Links:

dbSNP: rs11309117

NCBI 1000 Genomes Browser:

rs11309117

Molecular consequence:

NM_000251.3:c.942+21_942+29del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258281.1:c.744+21_744+29del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002526768	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Mar 23, 2020)	germline	curation	Citation Link,
SCV002819170	Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 18, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002526768

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Benign
(Mar 23, 2020)

germline

curation

Citation Link,

SCV002819170

Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Aug 18, 2022)

germline

clinical testing

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

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, curation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Sema4, Sema4, SCV002526768.1

#	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

From Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV002819170.1

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

#	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: Feb 28, 2024

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