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NM_000251.3(MSH2):c.211+14dup AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 22, 2016
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:
RCV000478653.1

Allele description [Variation Report for NM_000251.3(MSH2):c.211+14dup]

NM_000251.3(MSH2):c.211+14dup

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.211+14dup
HGVS:
  • NC_000002.12:g.47403416dup
  • NG_007110.2:g.5293dup
  • NM_000251.3:c.211+14dupMANE SELECT
  • NM_001258281.1:c.13+14dup
  • LRG_218t1:c.211+14dup
  • LRG_218:g.5293dup
  • NC_000002.11:g.47630554_47630555insC
  • NC_000002.11:g.47630555dup
  • NM_000251.2:c.211+14dup
  • NM_000251.2:c.211+14dupC
Links:
dbSNP: rs1553348925
NCBI 1000 Genomes Browser:
rs1553348925
Molecular consequence:
  • NM_000251.3:c.211+14dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258281.1:c.13+14dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000571784GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Sep 22, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000571784.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024