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NM_000179.3(MSH6):c.2003C>A (p.Ser668Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 22, 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:
RCV001014059.4

Allele description [Variation Report for NM_000179.3(MSH6):c.2003C>A (p.Ser668Tyr)]

NM_000179.3(MSH6):c.2003C>A (p.Ser668Tyr)

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.2003C>A (p.Ser668Tyr)
HGVS:
  • NC_000002.12:g.47799986C>A
  • NG_007111.1:g.21840C>A
  • NM_000179.3:c.2003C>AMANE SELECT
  • NM_001281492.2:c.1613C>A
  • NM_001281493.2:c.1097C>A
  • NM_001281494.2:c.1097C>A
  • NP_000170.1:p.Ser668Tyr
  • NP_001268421.1:p.Ser538Tyr
  • NP_001268422.1:p.Ser366Tyr
  • NP_001268423.1:p.Ser366Tyr
  • LRG_219t1:c.2003C>A
  • LRG_219:g.21840C>A
  • NC_000002.11:g.48027125C>A
  • NM_000179.2:c.2003C>A
Protein change:
S366Y
Links:
dbSNP: rs923709484
NCBI 1000 Genomes Browser:
rs923709484
Molecular consequence:
  • NM_000179.3:c.2003C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.1613C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1097C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1097C>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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001174718Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 22, 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, SCV001174718.5

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

Description

The p.S668Y variant (also known as c.2003C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 2003. The serine at codon 668 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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

Last Updated: Aug 11, 2024