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NM_000179.3(MSH6):c.1964T>C (p.Leu655Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 2020
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:
RCV002423176.2

Allele description [Variation Report for NM_000179.3(MSH6):c.1964T>C (p.Leu655Ser)]

NM_000179.3(MSH6):c.1964T>C (p.Leu655Ser)

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.1964T>C (p.Leu655Ser)
HGVS:
  • NC_000002.12:g.47799947T>C
  • NG_007111.1:g.21801T>C
  • NM_000179.3:c.1964T>CMANE SELECT
  • NM_001281492.2:c.1574T>C
  • NM_001281493.2:c.1058T>C
  • NM_001281494.2:c.1058T>C
  • NP_000170.1:p.Leu655Ser
  • NP_001268421.1:p.Leu525Ser
  • NP_001268422.1:p.Leu353Ser
  • NP_001268423.1:p.Leu353Ser
  • LRG_219t1:c.1964T>C
  • LRG_219:g.21801T>C
  • NC_000002.11:g.48027086T>C
  • NM_000179.2:c.1964T>C
Protein change:
L353S
Links:
dbSNP: rs2104379257
NCBI 1000 Genomes Browser:
rs2104379257
Molecular consequence:
  • NM_000179.3:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.1574T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1058T>C - 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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002721472Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 22, 2020) 		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, SCV002721472.2

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

Description

The p.L655S variant (also known as c.1964T>C), located in coding exon 4 of the MSH6 gene, results from a T to C substitution at nucleotide position 1964. The leucine at codon 655 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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