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NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer) AND Lynch syndrome 5

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 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:
RCV002290530.2

Allele description [Variation Report for NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)]

NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)
HGVS:
  • NC_000002.12:g.47799980_47799981del
  • NG_007111.1:g.21834_21835del
  • NM_000179.3:c.1997_1998delMANE SELECT
  • NM_001281492.2:c.1607_1608del
  • NM_001281493.2:c.1091_1092del
  • NM_001281494.2:c.1091_1092del
  • NP_000170.1:p.Glu665_Ser666insTer
  • NP_001268421.1:p.Glu535_Ser536insTer
  • NP_001268422.1:p.Glu363_Ser364insTer
  • NP_001268423.1:p.Glu363_Ser364insTer
  • LRG_219t1:c.1997_1998del
  • LRG_219:g.21834_21835del
  • NC_000002.11:g.48027118_48027119del
  • NC_000002.11:g.48027119_48027120del
  • NM_000179.2:c.1997_1998del
  • NM_000179.2:c.1997_1998delCT
Links:
dbSNP: rs1572725235
NCBI 1000 Genomes Browser:
rs1572725235
Molecular consequence:
  • NM_000179.3:c.1997_1998del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281492.2:c.1607_1608del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.2:c.1091_1092del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.2:c.1091_1092del - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Lynch syndrome 5 (LYNCH5)
Synonyms:
Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary non-polyposis colorectal cancer, type 5
Identifiers:
MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002580097MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 31, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

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 MGZ Medical Genetics Center, SCV002580097.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024