U.S. flag

An official website of the United States government

NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 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:
RCV000218234.4

Allele description [Variation Report for NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)]

NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)
HGVS:
  • NC_000002.11:g.48033458_48033460dup
  • NC_000002.12:g.47806316AGA[3]
  • NG_007111.1:g.28170AGA[3]
  • NG_008397.1:g.104355TCT[3]
  • NM_000179.3:c.3759AGA[3]MANE SELECT
  • NM_001281492.2:c.3369AGA[3]
  • NM_001281493.2:c.2853AGA[3]
  • NM_001281494.2:c.2853AGA[3]
  • NP_000170.1:p.Glu1254dup
  • NP_001268421.1:p.Glu1124dup
  • NP_001268422.1:p.Glu952dup
  • NP_001268423.1:p.Glu952dup
  • LRG_219t1:c.3762_3764dup
  • LRG_219:g.28170AGA[3]
  • NC_000002.11:g.48033454_48033455insAGA
  • NC_000002.11:g.48033455AGA[3]
  • NC_000002.11:g.48033458_48033460dup
  • NM_000179.2:c.3762_3764dup
  • NM_000179.2:c.3762_3764dupAGA
  • NM_000179.3:c.3762_3764dupMANE SELECT
Links:
dbSNP: rs587779937
NCBI 1000 Genomes Browser:
rs587779937
Molecular consequence:
  • NM_000179.3:c.3759AGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001281492.2:c.3369AGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001281493.2:c.2853AGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001281494.2:c.2853AGA[3] - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000278634Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 16, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000278634.7

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

Description

The c.3762_3764dupAGA variant (also known as p.E1254dup), located in coding exon 8 of the MSH6 gene, results from an in-frame duplication of AGA at nucleotide positions 3762 to 3764. This results in the duplication of an extra residue between codons 1254 and 1255. Based on internal structural analysis p.E1254dup is not tolerated. 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). Based on the available evidence, 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