NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) 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:
RCV000986745.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)]

NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
HGVS:
  • NC_000002.12:g.47806646_47806649dup
  • NG_007111.1:g.28500_28503dup
  • NG_008397.1:g.104029_104032dup
  • NM_000179.3:c.3996_3999dupMANE SELECT
  • NM_001281492.2:c.3606_3609dup
  • NM_001281493.2:c.3090_3093dup
  • NM_001281494.2:c.3090_3093dup
  • NP_000170.1:p.Arg1334fs
  • NP_000170.1:p.Arg1334fs
  • NP_001268421.1:p.Arg1204fs
  • NP_001268422.1:p.Arg1032fs
  • NP_001268423.1:p.Arg1032fs
  • LRG_219t1:c.3996_3999dup
  • LRG_219:g.28500_28503dup
  • LRG_219p1:p.Arg1334fs
  • NC_000002.11:g.48033782_48033783insTTAT
  • NC_000002.11:g.48033785_48033788dup
  • NM_000179.2:c.3996_3999dup
  • NM_000179.2:c.3996_3999dupATTT
Protein change:
R1032fs
Links:
dbSNP: rs1553333753
NCBI 1000 Genomes Browser:
rs1553333753
Molecular consequence:
  • NM_000179.3:c.3996_3999dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3606_3609dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.3090_3093dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.3090_3093dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001135857Mendelicscriteria 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, SCV001135857.1

#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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