NM_000179.3(MSH6):c.920A>C (p.Asn307Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 25, 2021
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:: RCV002371249.2

Allele description [Variation Report for NM_000179.3(MSH6):c.920A>C (p.Asn307Thr)]

NM_000179.3(MSH6):c.920A>C (p.Asn307Thr)

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.920A>C (p.Asn307Thr)

HGVS:

NC_000002.12:g.47798903A>C
NG_007111.1:g.20757A>C
NM_000179.3:c.920A>CMANE SELECT
NM_001281492.2:c.530A>C
NM_001281493.2:c.14A>C
NM_001281494.2:c.14A>C
NM_001406795.1:c.1016A>C
NM_001406796.1:c.920A>C
NM_001406797.1:c.623A>C
NM_001406798.1:c.920A>C
NM_001406799.1:c.395A>C
NM_001406800.1:c.920A>C
NM_001406801.1:c.623A>C
NM_001406802.1:c.1016A>C
NM_001406803.1:c.920A>C
NM_001406804.1:c.842A>C
NM_001406805.1:c.623A>C
NM_001406806.1:c.395A>C
NM_001406807.1:c.395A>C
NM_001406808.1:c.920A>C
NM_001406809.1:c.920A>C
NM_001406811.1:c.14A>C
NM_001406812.1:c.14A>C
NM_001406813.1:c.926A>C
NM_001406814.1:c.14A>C
NM_001406815.1:c.14A>C
NM_001406816.1:c.14A>C
NM_001406817.1:c.920A>C
NM_001406818.1:c.623A>C
NM_001406819.1:c.623A>C
NM_001406820.1:c.623A>C
NM_001406821.1:c.623A>C
NM_001406822.1:c.623A>C
NM_001406823.1:c.14A>C
NM_001406824.1:c.623A>C
NM_001406825.1:c.623A>C
NM_001406826.1:c.752A>C
NM_001406827.1:c.623A>C
NM_001406828.1:c.623A>C
NM_001406829.1:c.14A>C
NM_001406830.1:c.623A>C
NP_000170.1:p.Asn307Thr
NP_000170.1:p.Asn307Thr
NP_001268421.1:p.Asn177Thr
NP_001268422.1:p.Asn5Thr
NP_001268423.1:p.Asn5Thr
NP_001393724.1:p.Asn339Thr
NP_001393725.1:p.Asn307Thr
NP_001393726.1:p.Asn208Thr
NP_001393727.1:p.Asn307Thr
NP_001393728.1:p.Asn132Thr
NP_001393729.1:p.Asn307Thr
NP_001393730.1:p.Asn208Thr
NP_001393731.1:p.Asn339Thr
NP_001393732.1:p.Asn307Thr
NP_001393733.1:p.Asn281Thr
NP_001393734.1:p.Asn208Thr
NP_001393735.1:p.Asn132Thr
NP_001393736.1:p.Asn132Thr
NP_001393737.1:p.Asn307Thr
NP_001393738.1:p.Asn307Thr
NP_001393740.1:p.Asn5Thr
NP_001393741.1:p.Asn5Thr
NP_001393742.1:p.Asn309Thr
NP_001393743.1:p.Asn5Thr
NP_001393744.1:p.Asn5Thr
NP_001393745.1:p.Asn5Thr
NP_001393746.1:p.Asn307Thr
NP_001393747.1:p.Asn208Thr
NP_001393748.1:p.Asn208Thr
NP_001393749.1:p.Asn208Thr
NP_001393750.1:p.Asn208Thr
NP_001393751.1:p.Asn208Thr
NP_001393752.1:p.Asn5Thr
NP_001393753.1:p.Asn208Thr
NP_001393754.1:p.Asn208Thr
NP_001393755.1:p.Asn251Thr
NP_001393756.1:p.Asn208Thr
NP_001393757.1:p.Asn208Thr
NP_001393758.1:p.Asn5Thr
NP_001393759.1:p.Asn208Thr
LRG_219t1:c.920A>C
LRG_219:g.20757A>C
LRG_219p1:p.Asn307Thr
NC_000002.11:g.48026042A>C
NM_000179.2:c.920A>C
NR_176257.1:n.1009A>C
NR_176258.1:n.1009A>C
NR_176259.1:n.1009A>C
NR_176261.1:n.1009A>C

Protein change:

N132T

Molecular consequence:

NM_000179.3:c.920A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.530A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.14A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.14A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.1016A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.920A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.920A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.395A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.920A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.1016A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.920A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.842A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.395A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.395A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.920A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.920A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.14A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.14A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.926A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.14A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.14A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.14A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406817.1:c.920A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.14A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.752A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.14A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.623A>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

Recent activity

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BTB/POZ domain-containing protein DOT3 [Cucumis sativus]
BTB/POZ domain-containing protein DOT3 [Cucumis sativus]
gi|1784875874|ref|XP_031740482.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002688126	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 25, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002688126

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 25, 2021)

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, SCV002688126.2

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

Description

The p.N307T variant (also known as c.920A>C), located in coding exon 4 of the MSH6 gene, results from an A to C substitution at nucleotide position 920. The asparagine at codon 307 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well 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: May 1, 2024

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