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NM_000179.3(MSH6):c.3556+36_3556+39del AND Lynch syndrome 5

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 31, 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:
RCV000409782.3

Allele description [Variation Report for NM_000179.3(MSH6):c.3556+36_3556+39del]

NM_000179.3(MSH6):c.3556+36_3556+39del

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3556+36_3556+39del
HGVS:
  • NC_000002.12:g.47805063_47805066del
  • NG_007111.1:g.26917_26920del
  • NG_008397.1:g.105613_105616del
  • NM_000179.3:c.3556+36_3556+39delMANE SELECT
  • NM_001281492.2:c.3166+36_3166+39del
  • NM_001281493.2:c.2650+36_2650+39del
  • NM_001281494.2:c.2650+36_2650+39del
  • LRG_219:g.26917_26920del
  • NC_000002.11:g.48032202_48032205del
  • NM_000179.2:c.3556+36_3556+39delGTCA
  • NM_000179.3:c.3556+36_3556+39delGTCAMANE SELECT
Links:
dbSNP: rs55684722
NCBI 1000 Genomes Browser:
rs55684722
Molecular consequence:
  • NM_000179.3:c.3556+36_3556+39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281492.2:c.3166+36_3166+39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281493.2:c.2650+36_2650+39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281494.2:c.2650+36_2650+39del - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000489197Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Likely benign
(Aug 31, 2016) 		unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000489197.2

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

Last Updated: Oct 8, 2024