NM_000179.3(MSH6):c.3916G>A (p.Ala1306Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 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:: RCV002352974.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3916G>A (p.Ala1306Thr)]

NM_000179.3(MSH6):c.3916G>A (p.Ala1306Thr)

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.3916G>A (p.Ala1306Thr)

HGVS:

NC_000002.12:g.47806566G>A
NG_007111.1:g.28420G>A
NG_008397.1:g.104110C>T
NM_000179.3:c.3916G>AMANE SELECT
NM_001281492.2:c.3526G>A
NM_001281493.2:c.3010G>A
NM_001281494.2:c.3010G>A
NM_001406795.1:c.4012G>A
NM_001406796.1:c.3916G>A
NM_001406797.1:c.3619G>A
NM_001406798.1:c.3742G>A
NM_001406799.1:c.3391G>A
NM_001406800.1:c.3903G>A
NM_001406801.1:c.3619G>A
NM_001406803.1:c.3052G>A
NM_001406804.1:c.3838G>A
NM_001406805.1:c.3619G>A
NM_001406806.1:c.3391G>A
NM_001406807.1:c.3391G>A
NM_001406808.1:c.3916G>A
NM_001406809.1:c.3916G>A
NM_001406811.1:c.3010G>A
NM_001406812.1:c.3010G>A
NM_001406813.1:c.3922G>A
NM_001406814.1:c.3010G>A
NM_001406815.1:c.3010G>A
NM_001406816.1:c.3010G>A
NM_001406817.1:c.2350G>A
NM_001406818.1:c.3619G>A
NM_001406819.1:c.3619G>A
NM_001406820.1:c.3619G>A
NM_001406821.1:c.3619G>A
NM_001406822.1:c.3619G>A
NM_001406823.1:c.3010G>A
NM_001406824.1:c.3619G>A
NM_001406825.1:c.3619G>A
NM_001406826.1:c.3748G>A
NM_001406827.1:c.3619G>A
NM_001406828.1:c.3619G>A
NM_001406829.1:c.3010G>A
NM_001406830.1:c.3619G>A
NM_001406831.1:c.697G>A
NM_001406832.1:c.763G>A
NM_001407362.1:c.1861G>A
NP_000170.1:p.Ala1306Thr
NP_000170.1:p.Ala1306Thr
NP_001268421.1:p.Ala1176Thr
NP_001268422.1:p.Ala1004Thr
NP_001268423.1:p.Ala1004Thr
NP_001393724.1:p.Ala1338Thr
NP_001393725.1:p.Ala1306Thr
NP_001393726.1:p.Ala1207Thr
NP_001393727.1:p.Ala1248Thr
NP_001393728.1:p.Ala1131Thr
NP_001393729.1:p.Leu1301=
NP_001393730.1:p.Ala1207Thr
NP_001393732.1:p.Ala1018Thr
NP_001393733.1:p.Ala1280Thr
NP_001393734.1:p.Ala1207Thr
NP_001393735.1:p.Ala1131Thr
NP_001393736.1:p.Ala1131Thr
NP_001393737.1:p.Ala1306Thr
NP_001393738.1:p.Ala1306Thr
NP_001393740.1:p.Ala1004Thr
NP_001393741.1:p.Ala1004Thr
NP_001393742.1:p.Ala1308Thr
NP_001393743.1:p.Ala1004Thr
NP_001393744.1:p.Ala1004Thr
NP_001393745.1:p.Ala1004Thr
NP_001393746.1:p.Ala784Thr
NP_001393747.1:p.Ala1207Thr
NP_001393748.1:p.Ala1207Thr
NP_001393749.1:p.Ala1207Thr
NP_001393750.1:p.Ala1207Thr
NP_001393751.1:p.Ala1207Thr
NP_001393752.1:p.Ala1004Thr
NP_001393753.1:p.Ala1207Thr
NP_001393754.1:p.Ala1207Thr
NP_001393755.1:p.Ala1250Thr
NP_001393756.1:p.Ala1207Thr
NP_001393757.1:p.Ala1207Thr
NP_001393758.1:p.Ala1004Thr
NP_001393759.1:p.Ala1207Thr
NP_001393760.1:p.Ala233Thr
NP_001393761.1:p.Ala255Thr
NP_001394291.1:p.Ala621Thr
LRG_219t1:c.3916G>A
LRG_219:g.28420G>A
LRG_219p1:p.Ala1306Thr
NC_000002.11:g.48033705G>A
NM_000179.2:c.3916G>A
NR_176256.1:n.2846G>A
NR_176257.1:n.4177G>A
NR_176258.1:n.4106G>A
NR_176259.1:n.4005G>A
NR_176260.1:n.1950G>A
NR_176261.1:n.3887G>A

Protein change:

A1004T

Molecular consequence:

NM_000179.3:c.3916G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.3526G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.4012G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.3916G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.3742G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.3391G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.3052G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.3838G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.3391G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.3391G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.3916G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.3916G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.3922G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406817.1:c.2350G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.3619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406831.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406832.1:c.763G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407362.1:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.3903G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002620319	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002620319

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 12, 2022)

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, SCV002620319.2

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

Description

The p.A1306T variant (also known as c.3916G>A), located in coding exon 9 of the MSH6 gene, results from a G to A substitution at nucleotide position 3916. The alanine at codon 1306 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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: Sep 29, 2024

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