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NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 5, 2023
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:
RCV000485186.4

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000569625GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jun 5, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569625.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In-frame duplication of 1 amino acid in a non-repeat region; Observed in at least two individuals suspected of having Lynch syndrome, and was identified at similar frequencies between Icelandic colorectal cancer patients and controls (p=0.69) (Lagerstedt-Robinson et al., 2016; Haraldsdottir et al., 2017); This variant is associated with the following publications: (PMID: 24689082, 28466842, 17531815, 21120944, 27601186)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024