NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) AND Hereditary nonpolyposis colorectal cancer type 5

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

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000576807.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)]

NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
HGVS:
  • NC_000002.12:g.47806310_47806313dup
  • NG_007111.1:g.28164_28167dup
  • NG_008397.1:g.104363_104366dup
  • NM_000179.3:c.3753_3756dupMANE SELECT
  • NM_001281492.2:c.3363_3366dup
  • NM_001281493.2:c.2847_2850dup
  • NM_001281494.2:c.2847_2850dup
  • NP_000170.1:p.Val1253fs
  • NP_001268421.1:p.Val1123fs
  • NP_001268422.1:p.Val951fs
  • NP_001268423.1:p.Val951fs
  • LRG_219:g.28164_28167dup
  • NC_000002.11:g.48033448_48033449insATTA
  • NC_000002.11:g.48033448_48033449insATTA
  • NC_000002.11:g.48033449_48033452dup
  • NC_000002.11:g.48033449_48033452dupATTA
  • NM_000179.2:c.3753_3756dupATTA
Protein change:
V1123fs
Links:
dbSNP: rs876661222
NCBI 1000 Genomes Browser:
rs876661222
Molecular consequence:
  • NM_000179.3:c.3753_3756dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3363_3366dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2847_2850dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2847_2850dup - 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
SCV000677835Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 16, 2017)
unknownclinical testing

Citation Link,

SCV001135847Mendelicscriteria 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 Counsyl, SCV000677835.1

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

From Mendelics, SCV001135847.1

#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: Nov 27, 2021

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