NM_000179.3(MSH6):c.2464C>G (p.Leu822Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 4, 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:: RCV002430746.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2464C>G (p.Leu822Val)]

NM_000179.3(MSH6):c.2464C>G (p.Leu822Val)

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.2464C>G (p.Leu822Val)

HGVS:

NC_000002.12:g.47800447C>G
NG_007111.1:g.22301C>G
NM_000179.3:c.2464C>GMANE SELECT
NM_001281492.2:c.2074C>G
NM_001281493.2:c.1558C>G
NM_001281494.2:c.1558C>G
NM_001406795.1:c.2560C>G
NM_001406796.1:c.2464C>G
NM_001406797.1:c.2167C>G
NM_001406798.1:c.2464C>G
NM_001406799.1:c.1939C>G
NM_001406800.1:c.2464C>G
NM_001406801.1:c.2167C>G
NM_001406802.1:c.2560C>G
NM_001406804.1:c.2386C>G
NM_001406805.1:c.2167C>G
NM_001406806.1:c.1939C>G
NM_001406807.1:c.1939C>G
NM_001406808.1:c.2464C>G
NM_001406809.1:c.2464C>G
NM_001406811.1:c.1558C>G
NM_001406812.1:c.1558C>G
NM_001406813.1:c.2470C>G
NM_001406814.1:c.1558C>G
NM_001406815.1:c.1558C>G
NM_001406816.1:c.1558C>G
NM_001406818.1:c.2167C>G
NM_001406819.1:c.2167C>G
NM_001406820.1:c.2167C>G
NM_001406821.1:c.2167C>G
NM_001406822.1:c.2167C>G
NM_001406823.1:c.1558C>G
NM_001406824.1:c.2167C>G
NM_001406825.1:c.2167C>G
NM_001406826.1:c.2296C>G
NM_001406827.1:c.2167C>G
NM_001406828.1:c.2167C>G
NM_001406829.1:c.1558C>G
NM_001406830.1:c.2167C>G
NP_000170.1:p.Leu822Val
NP_000170.1:p.Leu822Val
NP_001268421.1:p.Leu692Val
NP_001268422.1:p.Leu520Val
NP_001268423.1:p.Leu520Val
NP_001393724.1:p.Leu854Val
NP_001393725.1:p.Leu822Val
NP_001393726.1:p.Leu723Val
NP_001393727.1:p.Leu822Val
NP_001393728.1:p.Leu647Val
NP_001393729.1:p.Leu822Val
NP_001393730.1:p.Leu723Val
NP_001393731.1:p.Leu854Val
NP_001393733.1:p.Leu796Val
NP_001393734.1:p.Leu723Val
NP_001393735.1:p.Leu647Val
NP_001393736.1:p.Leu647Val
NP_001393737.1:p.Leu822Val
NP_001393738.1:p.Leu822Val
NP_001393740.1:p.Leu520Val
NP_001393741.1:p.Leu520Val
NP_001393742.1:p.Leu824Val
NP_001393743.1:p.Leu520Val
NP_001393744.1:p.Leu520Val
NP_001393745.1:p.Leu520Val
NP_001393747.1:p.Leu723Val
NP_001393748.1:p.Leu723Val
NP_001393749.1:p.Leu723Val
NP_001393750.1:p.Leu723Val
NP_001393751.1:p.Leu723Val
NP_001393752.1:p.Leu520Val
NP_001393753.1:p.Leu723Val
NP_001393754.1:p.Leu723Val
NP_001393755.1:p.Leu766Val
NP_001393756.1:p.Leu723Val
NP_001393757.1:p.Leu723Val
NP_001393758.1:p.Leu520Val
NP_001393759.1:p.Leu723Val
LRG_219t1:c.2464C>G
LRG_219:g.22301C>G
LRG_219p1:p.Leu822Val
NC_000002.11:g.48027586C>G
NM_000179.2:c.2464C>G
NR_176256.1:n.1326C>G
NR_176257.1:n.2553C>G
NR_176258.1:n.2553C>G
NR_176259.1:n.2553C>G
NR_176261.1:n.2553C>G

Protein change:

L520V

Molecular consequence:

NM_000179.3:c.2464C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.2074C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.2560C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.2464C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.2464C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.1939C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.2464C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.2560C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.2386C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.1939C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.1939C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.2464C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.2464C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.2470C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.2296C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.2167C>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
SCV002731662	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002731662

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 4, 2020)

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, SCV002731662.2

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

Description

The p.L822V variant (also known as c.2464C>G), located in coding exon 4 of the MSH6 gene, results from a C to G substitution at nucleotide position 2464. The leucine at codon 822 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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: May 1, 2024

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