NM_000179.3(MSH6):c.670G>C (p.Glu224Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 15, 2023
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:: RCV003365783.2

Allele description [Variation Report for NM_000179.3(MSH6):c.670G>C (p.Glu224Gln)]

NM_000179.3(MSH6):c.670G>C (p.Glu224Gln)

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.670G>C (p.Glu224Gln)

HGVS:

NC_000002.12:g.47798653G>C
NG_007111.1:g.20507G>C
NM_000179.3:c.670G>CMANE SELECT
NM_001281492.2:c.280G>C
NM_001281493.2:c.-237G>C
NM_001281494.2:c.-237G>C
NM_001406795.1:c.766G>C
NM_001406796.1:c.670G>C
NM_001406797.1:c.373G>C
NM_001406798.1:c.670G>C
NM_001406799.1:c.145G>C
NM_001406800.1:c.670G>C
NM_001406801.1:c.373G>C
NM_001406802.1:c.766G>C
NM_001406803.1:c.670G>C
NM_001406804.1:c.592G>C
NM_001406805.1:c.373G>C
NM_001406806.1:c.145G>C
NM_001406807.1:c.145G>C
NM_001406808.1:c.670G>C
NM_001406809.1:c.670G>C
NM_001406811.1:c.-237G>C
NM_001406812.1:c.-237G>C
NM_001406813.1:c.676G>C
NM_001406814.1:c.-237G>C
NM_001406815.1:c.-237G>C
NM_001406816.1:c.-237G>C
NM_001406817.1:c.670G>C
NM_001406818.1:c.373G>C
NM_001406819.1:c.373G>C
NM_001406820.1:c.373G>C
NM_001406821.1:c.373G>C
NM_001406822.1:c.373G>C
NM_001406823.1:c.-237G>C
NM_001406824.1:c.373G>C
NM_001406825.1:c.373G>C
NM_001406826.1:c.502G>C
NM_001406827.1:c.373G>C
NM_001406828.1:c.373G>C
NM_001406829.1:c.-237G>C
NM_001406830.1:c.373G>C
NP_000170.1:p.Glu224Gln
NP_000170.1:p.Glu224Gln
NP_001268421.1:p.Glu94Gln
NP_001393724.1:p.Glu256Gln
NP_001393725.1:p.Glu224Gln
NP_001393726.1:p.Glu125Gln
NP_001393727.1:p.Glu224Gln
NP_001393728.1:p.Glu49Gln
NP_001393729.1:p.Glu224Gln
NP_001393730.1:p.Glu125Gln
NP_001393731.1:p.Glu256Gln
NP_001393732.1:p.Glu224Gln
NP_001393733.1:p.Glu198Gln
NP_001393734.1:p.Glu125Gln
NP_001393735.1:p.Glu49Gln
NP_001393736.1:p.Glu49Gln
NP_001393737.1:p.Glu224Gln
NP_001393738.1:p.Glu224Gln
NP_001393742.1:p.Glu226Gln
NP_001393746.1:p.Glu224Gln
NP_001393747.1:p.Glu125Gln
NP_001393748.1:p.Glu125Gln
NP_001393749.1:p.Glu125Gln
NP_001393750.1:p.Glu125Gln
NP_001393751.1:p.Glu125Gln
NP_001393753.1:p.Glu125Gln
NP_001393754.1:p.Glu125Gln
NP_001393755.1:p.Glu168Gln
NP_001393756.1:p.Glu125Gln
NP_001393757.1:p.Glu125Gln
NP_001393759.1:p.Glu125Gln
LRG_219t1:c.670G>C
LRG_219:g.20507G>C
LRG_219p1:p.Glu224Gln
NC_000002.11:g.48025792G>C
NM_000179.2:c.670G>C
NR_176257.1:n.759G>C
NR_176258.1:n.759G>C
NR_176259.1:n.759G>C
NR_176261.1:n.759G>C

Protein change:

E125Q

Molecular consequence:

NM_001281493.2:c.-237G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001281494.2:c.-237G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000179.3:c.670G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.280G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.766G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.670G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.670G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.145G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.670G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.766G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.670G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.592G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.145G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.145G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.670G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.670G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.676G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406817.1:c.670G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.502G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.373G>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

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Rpt2 [Culex quinquefasciatus]
Rpt2 [Culex quinquefasciatus]
Gene ID:6044345

Gene
Metagenomic sequencing of cattle
Metagenomic sequencing of cattle
Metagenomic sequencing of the rumen of 240 cattle from Scotland

BioProject
BioProject Links for Nucleotide (Select 1810293871) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004055244	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004055244

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 15, 2023)

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, SCV004055244.2

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

Description

The p.E224Q variant (also known as c.670G>C), located in coding exon 4 of the MSH6 gene, results from a G to C substitution at nucleotide position 670. The glutamic acid at codon 224 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Sep 29, 2024

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