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NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup) AND Lynch syndrome 5

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483628.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)]

NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)
HGVS:
  • NC_000002.12:g.47806498_47806500dup
  • NG_007111.1:g.28352_28354dup
  • NG_008397.1:g.104178_104180dup
  • NM_000179.3:c.3848_3850dupMANE SELECT
  • NM_001281492.2:c.3458_3460dup
  • NM_001281493.2:c.2942_2944dup
  • NM_001281494.2:c.2942_2944dup
  • NP_000170.1:p.Ile1283dup
  • NP_000170.1:p.Ile1283dup
  • NP_001268421.1:p.Ile1153dup
  • NP_001268422.1:p.Ile981dup
  • NP_001268423.1:p.Ile981dup
  • LRG_219t1:c.3848_3850dup
  • LRG_219:g.28352_28354dup
  • LRG_219p1:p.Ile1283dup
  • NC_000002.11:g.48033634_48033635insTAT
  • NC_000002.11:g.48033637_48033639dup
  • NM_000179.2:c.3848_3850dup
  • NM_000179.2:c.3848_3850dupTTA
  • NM_000179.3:c.3848_3850dupTTAMANE SELECT
Links:
dbSNP: rs1553333420
NCBI 1000 Genomes Browser:
rs1553333420
Molecular consequence:
  • NM_000179.3:c.3848_3850dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001281492.2:c.3458_3460dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001281493.2:c.2942_2944dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001281494.2:c.2942_2944dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV004228555GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228555.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 05-02-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024