U.S. flag

An official website of the United States government

NM_000179.3(MSH6):c.3355G>A (p.Glu1119Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 16, 2016
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:
RCV000491737.3

Allele description [Variation Report for NM_000179.3(MSH6):c.3355G>A (p.Glu1119Lys)]

NM_000179.3(MSH6):c.3355G>A (p.Glu1119Lys)

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.3355G>A (p.Glu1119Lys)
HGVS:
  • NC_000002.12:g.47803602G>A
  • NG_007111.1:g.25456G>A
  • NM_000179.3:c.3355G>AMANE SELECT
  • NM_001281492.2:c.2965G>A
  • NM_001281493.2:c.2449G>A
  • NM_001281494.2:c.2449G>A
  • NP_000170.1:p.Glu1119Lys
  • NP_000170.1:p.Glu1119Lys
  • NP_001268421.1:p.Glu989Lys
  • NP_001268422.1:p.Glu817Lys
  • NP_001268423.1:p.Glu817Lys
  • LRG_219t1:c.3355G>A
  • LRG_219:g.25456G>A
  • LRG_219p1:p.Glu1119Lys
  • NC_000002.11:g.48030741G>A
  • NM_000179.2:c.3355G>A
Protein change:
E1119K
Links:
dbSNP: rs267608084
NCBI 1000 Genomes Browser:
rs267608084
Molecular consequence:
  • NM_000179.3:c.3355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.2965G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.2449G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.2449G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000580355Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 16, 2016) 		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, SCV000580355.6

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

Description

The p.E1119K variant (also known as c.3355G>A), located in coding exon 5 of the MSH6 gene, results from a G to A substitution at nucleotide position 3355. The glutamic acid at codon 1119 is replaced by lysine, an amino acid with similar properties. 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 0.001% (greater than 150000 alleles tested) in our clinical cohort. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. In addition, the CoDP in silico tool predicts this alteration to have minor impact on molecular function, with a score of 0.01 (Terui H et al. J. Biomed. Sci. 2013;20:25). 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: May 1, 2024