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NM_000179.3(MSH6):c.3932_3934dup (p.Glu1311dup) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 2024
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:
RCV001021464.4

Allele description [Variation Report for NM_000179.3(MSH6):c.3932_3934dup (p.Glu1311dup)]

NM_000179.3(MSH6):c.3932_3934dup (p.Glu1311dup)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3932_3934dup (p.Glu1311dup)
HGVS:
  • NC_000002.12:g.47806582_47806584dup
  • NG_007111.1:g.28436_28438dup
  • NG_008397.1:g.104093_104095dup
  • NM_000179.2:c.3932_3934dup
  • NM_000179.3:c.3932_3934dupMANE SELECT
  • NM_001281492.2:c.3542_3544dup
  • NM_001281493.2:c.3026_3028dup
  • NM_001281494.2:c.3026_3028dup
  • NP_000170.1:p.Glu1311dup
  • NP_001268421.1:p.Glu1181dup
  • NP_001268422.1:p.Glu1009dup
  • NP_001268423.1:p.Glu1009dup
  • LRG_219t1:c.3932_3934dup
  • LRG_219:g.28436_28438dup
  • NC_000002.11:g.48033719_48033720insGAA
  • NC_000002.11:g.48033721_48033723dup
  • NM_000179.2:c.3932_3934dupAAG
Links:
dbSNP: rs774984690
NCBI 1000 Genomes Browser:
rs774984690
Molecular consequence:
  • NM_000179.3:c.3932_3934dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001281492.2:c.3542_3544dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001281493.2:c.3026_3028dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001281494.2:c.3026_3028dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV001183083Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 6, 2024) 		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, SCV001183083.5

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

Description

The c.3932_3934dupAAG variant (also known as p.E1311dup), located in coding exon 9 of the MSH6 gene, results from an in-frame duplication of AAG at nucleotide positions 3932 to 3934. This results in the duplication of an extra glutamic acid residue between codons 1311 and 1312. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024