NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) AND Hereditary nonpolyposis colorectal cancer type 5

Clinical significance:Likely pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000986728.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)]

NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
HGVS:
  • NC_000002.12:g.47801001C>A
  • NG_007111.1:g.22855C>A
  • NM_000179.3:c.3018C>AMANE SELECT
  • NM_001281492.2:c.2628C>A
  • NM_001281493.2:c.2112C>A
  • NM_001281494.2:c.2112C>A
  • NP_000170.1:p.Tyr1006Ter
  • NP_000170.1:p.Tyr1006Ter
  • NP_001268421.1:p.Tyr876Ter
  • NP_001268422.1:p.Tyr704Ter
  • NP_001268423.1:p.Tyr704Ter
  • LRG_219t1:c.3018C>A
  • LRG_219:g.22855C>A
  • LRG_219p1:p.Tyr1006Ter
  • NC_000002.11:g.48028140C>A
  • NM_000179.2:c.3018C>A
Protein change:
Y1006*
Links:
dbSNP: rs1553414395
NCBI 1000 Genomes Browser:
rs1553414395
Molecular consequence:
  • NM_000179.3:c.3018C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281492.2:c.2628C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.2:c.2112C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.2:c.2112C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary nonpolyposis colorectal cancer type 5 (HNPCC5)
Synonyms:
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001135828Mendelicscriteria provided, single submitter
Likely pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001135828.1

#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: Dec 4, 2021

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