NM_000179.3(MSH6):c.28T>G (p.Phe10Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 17, 2017
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:: RCV002438064.2

Allele description [Variation Report for NM_000179.3(MSH6):c.28T>G (p.Phe10Val)]

NM_000179.3(MSH6):c.28T>G (p.Phe10Val)

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.28T>G (p.Phe10Val)

HGVS:

NC_000002.12:g.47783261T>G
NG_007111.1:g.5115T>G
NM_000179.3:c.28T>GMANE SELECT
NM_001281492.2:c.28T>G
NM_001281493.2:c.-709T>G
NM_001406795.1:c.28T>G
NM_001406796.1:c.28T>G
NM_001406798.1:c.28T>G
NM_001406799.1:c.-301T>G
NM_001406800.1:c.28T>G
NM_001406802.1:c.28T>G
NM_001406803.1:c.28T>G
NM_001406804.1:c.-28T>G
NM_001406807.1:c.-901T>G
NM_001406808.1:c.28T>G
NM_001406809.1:c.28T>G
NM_001406811.1:c.-709T>G
NM_001406812.1:c.-556T>G
NM_001406813.1:c.28T>G
NM_001406814.1:c.-967T>G
NM_001406816.1:c.-512T>G
NM_001406817.1:c.28T>G
NM_001407362.1:c.28T>G
NP_000170.1:p.Phe10Val
NP_000170.1:p.Phe10Val
NP_001268421.1:p.Phe10Val
NP_001393724.1:p.Phe10Val
NP_001393725.1:p.Phe10Val
NP_001393727.1:p.Phe10Val
NP_001393729.1:p.Phe10Val
NP_001393731.1:p.Phe10Val
NP_001393732.1:p.Phe10Val
NP_001393737.1:p.Phe10Val
NP_001393738.1:p.Phe10Val
NP_001393742.1:p.Phe10Val
NP_001393746.1:p.Phe10Val
NP_001394291.1:p.Phe10Val
LRG_219t1:c.28T>G
LRG_219:g.5115T>G
LRG_219p1:p.Phe10Val
NC_000002.11:g.48010400T>G
NM_000179.2:c.28T>G
NR_176256.1:n.117T>G
NR_176257.1:n.117T>G
NR_176258.1:n.117T>G
NR_176259.1:n.117T>G
NR_176260.1:n.117T>G
NR_176261.1:n.117T>G

Protein change:

F10V

Molecular consequence:

NM_001281493.2:c.-709T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000179.3:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406817.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407362.1:c.28T>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002746821	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 17, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002746821

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 17, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002746821.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.F10V variant (also known as c.28T>G), located in coding exon 1 of the MSH6 gene, results from a T to G substitution at nucleotide position 28. The phenylalanine at codon 10 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in 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 0.001 (Terui H et al. J. Biomed. Sci. 2013 Apr;20:25). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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