NM_000179.3(MSH6):c.2352C>G (p.Asn784Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 25, 2022
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:: RCV000571434.3

Allele description [Variation Report for NM_000179.3(MSH6):c.2352C>G (p.Asn784Lys)]

NM_000179.3(MSH6):c.2352C>G (p.Asn784Lys)

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.2352C>G (p.Asn784Lys)

HGVS:

NC_000002.12:g.47800335C>G
NG_007111.1:g.22189C>G
NM_000179.3:c.2352C>GMANE SELECT
NM_001281492.2:c.1962C>G
NM_001281493.2:c.1446C>G
NM_001281494.2:c.1446C>G
NP_000170.1:p.Asn784Lys
NP_000170.1:p.Asn784Lys
NP_001268421.1:p.Asn654Lys
NP_001268422.1:p.Asn482Lys
NP_001268423.1:p.Asn482Lys
LRG_219t1:c.2352C>G
LRG_219:g.22189C>G
LRG_219p1:p.Asn784Lys
NC_000002.11:g.48027474C>G
NM_000179.2:c.2352C>G

Protein change:

N482K

Links:

dbSNP: rs1553413722

NCBI 1000 Genomes Browser:

rs1553413722

Molecular consequence:

NM_000179.3:c.2352C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1962C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1446C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1446C>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
SCV000664873	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 25, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000664873

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 25, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Terui H, Akagi K, Kawame H, Yura K.

J Biomed Sci. 2013 Apr 28;20:25. doi: 10.1186/1423-0127-20-25.

PubMed [citation]

PMID:: 23621914
PMCID:: PMC3651391

Details of each submission

From Ambry Genetics, SCV000664873.5

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

Description

The p.N784K variant (also known as c.2352C>G), located in coding exon 4 of the MSH6 gene, results from a C to G substitution at nucleotide position 2352. The asparagine at codon 784 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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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