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NM_000251.3(MSH2):c.655dup (p.Arg219fs) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535531.2

Allele description [Variation Report for NM_000251.3(MSH2):c.655dup (p.Arg219fs)]

NM_000251.3(MSH2):c.655dup (p.Arg219fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.655dup (p.Arg219fs)
HGVS:
  • NC_000002.12:g.47412423dup
  • NG_007110.2:g.14300dup
  • NM_000251.1:c.655dupA
  • NM_000251.3:c.655dupMANE SELECT
  • NM_001258281.1:c.457dup
  • NP_000242.1:p.Arg219fs
  • NP_000242.1:p.Arg219fs
  • NP_001245210.1:p.Arg153fs
  • LRG_218t1:c.655dup
  • LRG_218:g.14300dup
  • LRG_218p1:p.Arg219fs
  • NC_000002.11:g.47639559_47639560insA
  • NC_000002.11:g.47639562dup
  • NM_000251.2:c.655dup
  • NM_000251.2:c.655dupA
Protein change:
R153fs
Links:
dbSNP: rs1558461615
NCBI 1000 Genomes Browser:
rs1558461615
Molecular consequence:
  • NM_000251.3:c.655dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258281.1:c.457dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Lynch syndrome 1
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435
Name:
Mismatch repair cancer syndrome 1 (MMRCS1)
Synonyms:
BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTP1 SYNDROME; CHILDHOOD CANCER SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010159; MedGen: C5399763; Orphanet: 252202; OMIM: 276300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749501GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749501.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 06-06-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Sep 29, 2024