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NM_000251.3(MSH2):c.942+15_942+29dup AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002249850.1

Allele description [Variation Report for NM_000251.3(MSH2):c.942+15_942+29dup]

NM_000251.3(MSH2):c.942+15_942+29dup

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.942+15_942+29dup
HGVS:
  • NC_000002.12:g.47414433_47414447dup
  • NG_007110.2:g.16310_16324dup
  • NM_000251.3:c.942+15_942+29dupMANE SELECT
  • NM_001258281.1:c.744+15_744+29dup
  • LRG_218:g.16310_16324dup
  • NC_000002.11:g.47641572_47641586dup
  • NC_000002.12:g.47414420_47414421insAAAAAAAAAAAAAAA
Links:
dbSNP: rs11309117
NCBI 1000 Genomes Browser:
rs11309117
Molecular consequence:
  • NM_000251.3:c.942+15_942+29dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258281.1:c.744+15_744+29dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002519461Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Benign
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV002519461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023