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NM_000179.3(MSH6):c.2260A>C (p.Thr754Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2018
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:
RCV000160679.4

Allele description [Variation Report for NM_000179.3(MSH6):c.2260A>C (p.Thr754Pro)]

NM_000179.3(MSH6):c.2260A>C (p.Thr754Pro)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2260A>C (p.Thr754Pro)
Other names:
p.T754P:ACT>CCT
HGVS:
  • NC_000002.12:g.47800243A>C
  • NG_007111.1:g.22097A>C
  • NM_000179.3:c.2260A>CMANE SELECT
  • NM_001281492.2:c.1870A>C
  • NM_001281493.2:c.1354A>C
  • NM_001281494.2:c.1354A>C
  • NP_000170.1:p.Thr754Pro
  • NP_000170.1:p.Thr754Pro
  • NP_001268421.1:p.Thr624Pro
  • NP_001268422.1:p.Thr452Pro
  • NP_001268423.1:p.Thr452Pro
  • LRG_219t1:c.2260A>C
  • LRG_219:g.22097A>C
  • LRG_219p1:p.Thr754Pro
  • NC_000002.11:g.48027382A>C
  • NM_000179.2:c.2260A>C
Protein change:
T452P
Links:
dbSNP: rs545057945
NCBI 1000 Genomes Browser:
rs545057945
Molecular consequence:
  • NM_000179.3:c.2260A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.1870A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1354A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1354A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211294GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 11, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211294.13

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

Description

This variant is denoted MSH6 c.2260A>C at the cDNA level, p.Thr754Pro (T754P) at the protein level, and results in the change of a Threonine to a Proline (ACT>CCT). This variant was observed in at least one individual diagnosed with breast cancer (Lu 2015). MSH6 Thr754Pro was not observed at a significant allele frequency in large population cohorts (Lek 2016). MSH6 Thr754Pro is located in the Lever domain (Warren 2007, Kansikas 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available information, it is unclear whether MSH6 Thr754Pro is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024