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NM_000179.3(MSH6):c.2579C>T (p.Ser860Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 28, 2015
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:
RCV000478111.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2579C>T (p.Ser860Phe)]

NM_000179.3(MSH6):c.2579C>T (p.Ser860Phe)

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.2579C>T (p.Ser860Phe)
HGVS:
  • NC_000002.12:g.47800562C>T
  • NG_007111.1:g.22416C>T
  • NM_000179.3:c.2579C>TMANE SELECT
  • NM_001281492.2:c.2189C>T
  • NM_001281493.2:c.1673C>T
  • NM_001281494.2:c.1673C>T
  • NP_000170.1:p.Ser860Phe
  • NP_000170.1:p.Ser860Phe
  • NP_001268421.1:p.Ser730Phe
  • NP_001268422.1:p.Ser558Phe
  • NP_001268423.1:p.Ser558Phe
  • LRG_219t1:c.2579C>T
  • LRG_219:g.22416C>T
  • LRG_219p1:p.Ser860Phe
  • NC_000002.11:g.48027701C>T
  • NM_000179.2:c.2579C>T
  • p.S860F
Protein change:
S558F
Links:
dbSNP: rs370412074
NCBI 1000 Genomes Browser:
rs370412074
Molecular consequence:
  • NM_000179.3:c.2579C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.2189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1673C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1673C>T - 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
SCV000568043GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 28, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000568043.4

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

Description

This variant is denoted MSH6 c.2579C>T at the cDNA level, p.Ser860Phe (S860F) at the protein level, and results in the change of a Serine to a Phenylalanine (TCT>TTT). This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. MSH6 Ser860Phe was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Serine and Phenylalanine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Ser860Phe occurs at a position that is conserved across species and is located in the MutS domain (Terui 2013). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether MSH6 Ser860Phe is pathogenic or benign.

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

Last Updated: Sep 29, 2024