NM_000179.3(MSH6):c.961T>A (p.Ser321Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 16, 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:: RCV002376469.2

Allele description [Variation Report for NM_000179.3(MSH6):c.961T>A (p.Ser321Thr)]

NM_000179.3(MSH6):c.961T>A (p.Ser321Thr)

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.961T>A (p.Ser321Thr)

HGVS:

NC_000002.12:g.47798944T>A
NG_007111.1:g.20798T>A
NM_000179.3:c.961T>AMANE SELECT
NM_001281492.2:c.571T>A
NM_001281493.2:c.55T>A
NM_001281494.2:c.55T>A
NM_001406795.1:c.1057T>A
NM_001406796.1:c.961T>A
NM_001406797.1:c.664T>A
NM_001406798.1:c.961T>A
NM_001406799.1:c.436T>A
NM_001406800.1:c.961T>A
NM_001406801.1:c.664T>A
NM_001406802.1:c.1057T>A
NM_001406803.1:c.961T>A
NM_001406804.1:c.883T>A
NM_001406805.1:c.664T>A
NM_001406806.1:c.436T>A
NM_001406807.1:c.436T>A
NM_001406808.1:c.961T>A
NM_001406809.1:c.961T>A
NM_001406811.1:c.55T>A
NM_001406812.1:c.55T>A
NM_001406813.1:c.967T>A
NM_001406814.1:c.55T>A
NM_001406815.1:c.55T>A
NM_001406816.1:c.55T>A
NM_001406817.1:c.961T>A
NM_001406818.1:c.664T>A
NM_001406819.1:c.664T>A
NM_001406820.1:c.664T>A
NM_001406821.1:c.664T>A
NM_001406822.1:c.664T>A
NM_001406823.1:c.55T>A
NM_001406824.1:c.664T>A
NM_001406825.1:c.664T>A
NM_001406826.1:c.793T>A
NM_001406827.1:c.664T>A
NM_001406828.1:c.664T>A
NM_001406829.1:c.55T>A
NM_001406830.1:c.664T>A
NP_000170.1:p.Ser321Thr
NP_000170.1:p.Ser321Thr
NP_001268421.1:p.Ser191Thr
NP_001268422.1:p.Ser19Thr
NP_001268423.1:p.Ser19Thr
NP_001393724.1:p.Ser353Thr
NP_001393725.1:p.Ser321Thr
NP_001393726.1:p.Ser222Thr
NP_001393727.1:p.Ser321Thr
NP_001393728.1:p.Ser146Thr
NP_001393729.1:p.Ser321Thr
NP_001393730.1:p.Ser222Thr
NP_001393731.1:p.Ser353Thr
NP_001393732.1:p.Ser321Thr
NP_001393733.1:p.Ser295Thr
NP_001393734.1:p.Ser222Thr
NP_001393735.1:p.Ser146Thr
NP_001393736.1:p.Ser146Thr
NP_001393737.1:p.Ser321Thr
NP_001393738.1:p.Ser321Thr
NP_001393740.1:p.Ser19Thr
NP_001393741.1:p.Ser19Thr
NP_001393742.1:p.Ser323Thr
NP_001393743.1:p.Ser19Thr
NP_001393744.1:p.Ser19Thr
NP_001393745.1:p.Ser19Thr
NP_001393746.1:p.Ser321Thr
NP_001393747.1:p.Ser222Thr
NP_001393748.1:p.Ser222Thr
NP_001393749.1:p.Ser222Thr
NP_001393750.1:p.Ser222Thr
NP_001393751.1:p.Ser222Thr
NP_001393752.1:p.Ser19Thr
NP_001393753.1:p.Ser222Thr
NP_001393754.1:p.Ser222Thr
NP_001393755.1:p.Ser265Thr
NP_001393756.1:p.Ser222Thr
NP_001393757.1:p.Ser222Thr
NP_001393758.1:p.Ser19Thr
NP_001393759.1:p.Ser222Thr
LRG_219t1:c.961T>A
LRG_219:g.20798T>A
LRG_219p1:p.Ser321Thr
NC_000002.11:g.48026083T>A
NM_000179.2:c.961T>A
NR_176257.1:n.1050T>A
NR_176258.1:n.1050T>A
NR_176259.1:n.1050T>A
NR_176261.1:n.1050T>A

Protein change:

S146T

Molecular consequence:

NM_000179.3:c.961T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.571T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.55T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.55T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.1057T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.961T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.961T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.961T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.1057T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.961T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.883T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.961T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.961T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.55T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.55T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.967T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.55T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.55T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.55T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406817.1:c.961T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.55T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.793T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.664T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.55T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.664T>A - 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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Rattus norvegicus transmembrane protein 33 (Tmem33), transcript variant 1, mRNA
Rattus norvegicus transmembrane protein 33 (Tmem33), transcript variant 1, mRNA
gi|612149765|ref|NM_021671.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002690664	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002690664

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 16, 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, SCV002690664.2

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

Description

The p.S321T variant (also known as c.961T>A), located in coding exon 4 of the MSH6 gene, results from a T to A substitution at nucleotide position 961. The serine at codon 321 is replaced by threonine, an amino acid with 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: May 1, 2024

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