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NM_000179.3(MSH6):c.3802-18_3802-16dup AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 23, 2014
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:
RCV002355188.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3802-18_3802-16dup]

NM_000179.3(MSH6):c.3802-18_3802-16dup

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3802-18_3802-16dup
HGVS:
  • NC_000002.12:g.47806434_47806436dup
  • NG_007111.1:g.28288_28290dup
  • NG_008397.1:g.104242_104244dup
  • NM_000179.3:c.3802-18_3802-16dupMANE SELECT
  • NM_001281492.2:c.3412-18_3412-16dup
  • NM_001281493.2:c.2896-18_2896-16dup
  • NM_001281494.2:c.2896-18_2896-16dup
  • LRG_219t1:c.3802-18_3802-16dup
  • LRG_219:g.28288_28290dup
  • NC_000002.11:g.48033573_48033575dup
  • NM_000179.2:c.3802-18_3802-16dupATA
Molecular consequence:
  • NM_000179.3:c.3802-18_3802-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281492.2:c.3412-18_3412-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281493.2:c.2896-18_2896-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281494.2:c.2896-18_2896-16dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002622274Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 23, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002622274.2

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

Description

The c.3802-18_3802-16dupATA intronic variant, results from a duplication of 3 nucleotides 18 nucleotides before coding exon 9 of the MSH6 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.006% (greater than 17,000 alleles tested) in our clinical cohort (includes this individual). This nucleotide region is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this acceptor/donor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of c.3802-18_3802-16dupATA remains unclear.

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

Last Updated: May 1, 2024