NM_000179.3(MSH6):c.2105C>A (p.Ser702Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 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:: RCV002424288.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2105C>A (p.Ser702Ter)]

NM_000179.3(MSH6):c.2105C>A (p.Ser702Ter)

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.2105C>A (p.Ser702Ter)

HGVS:

NC_000002.12:g.47800088C>A
NG_007111.1:g.21942C>A
NM_000179.3:c.2105C>AMANE SELECT
NM_001281492.2:c.1715C>A
NM_001281493.2:c.1199C>A
NM_001281494.2:c.1199C>A
NM_001406795.1:c.2201C>A
NM_001406796.1:c.2105C>A
NM_001406797.1:c.1808C>A
NM_001406798.1:c.2105C>A
NM_001406799.1:c.1580C>A
NM_001406800.1:c.2105C>A
NM_001406801.1:c.1808C>A
NM_001406802.1:c.2201C>A
NM_001406803.1:c.2105C>A
NM_001406804.1:c.2027C>A
NM_001406805.1:c.1808C>A
NM_001406806.1:c.1580C>A
NM_001406807.1:c.1580C>A
NM_001406808.1:c.2105C>A
NM_001406809.1:c.2105C>A
NM_001406811.1:c.1199C>A
NM_001406812.1:c.1199C>A
NM_001406813.1:c.2111C>A
NM_001406814.1:c.1199C>A
NM_001406815.1:c.1199C>A
NM_001406816.1:c.1199C>A
NM_001406818.1:c.1808C>A
NM_001406819.1:c.1808C>A
NM_001406820.1:c.1808C>A
NM_001406821.1:c.1808C>A
NM_001406822.1:c.1808C>A
NM_001406823.1:c.1199C>A
NM_001406824.1:c.1808C>A
NM_001406825.1:c.1808C>A
NM_001406826.1:c.1937C>A
NM_001406827.1:c.1808C>A
NM_001406828.1:c.1808C>A
NM_001406829.1:c.1199C>A
NM_001406830.1:c.1808C>A
NP_000170.1:p.Ser702Ter
NP_000170.1:p.Ser702Ter
NP_001268421.1:p.Ser572Ter
NP_001268422.1:p.Ser400Ter
NP_001268423.1:p.Ser400Ter
NP_001393724.1:p.Ser734Ter
NP_001393725.1:p.Ser702Ter
NP_001393726.1:p.Ser603Ter
NP_001393727.1:p.Ser702Ter
NP_001393728.1:p.Ser527Ter
NP_001393729.1:p.Ser702Ter
NP_001393730.1:p.Ser603Ter
NP_001393731.1:p.Ser734Ter
NP_001393732.1:p.Ser702Ter
NP_001393733.1:p.Ser676Ter
NP_001393734.1:p.Ser603Ter
NP_001393735.1:p.Ser527Ter
NP_001393736.1:p.Ser527Ter
NP_001393737.1:p.Ser702Ter
NP_001393738.1:p.Ser702Ter
NP_001393740.1:p.Ser400Ter
NP_001393741.1:p.Ser400Ter
NP_001393742.1:p.Ser704Ter
NP_001393743.1:p.Ser400Ter
NP_001393744.1:p.Ser400Ter
NP_001393745.1:p.Ser400Ter
NP_001393747.1:p.Ser603Ter
NP_001393748.1:p.Ser603Ter
NP_001393749.1:p.Ser603Ter
NP_001393750.1:p.Ser603Ter
NP_001393751.1:p.Ser603Ter
NP_001393752.1:p.Ser400Ter
NP_001393753.1:p.Ser603Ter
NP_001393754.1:p.Ser603Ter
NP_001393755.1:p.Ser646Ter
NP_001393756.1:p.Ser603Ter
NP_001393757.1:p.Ser603Ter
NP_001393758.1:p.Ser400Ter
NP_001393759.1:p.Ser603Ter
LRG_219t1:c.2105C>A
LRG_219:g.21942C>A
LRG_219p1:p.Ser702Ter
NC_000002.11:g.48027227C>A
NM_000179.2:c.2105C>A
NR_176256.1:n.967C>A
NR_176257.1:n.2194C>A
NR_176258.1:n.2194C>A
NR_176259.1:n.2194C>A
NR_176261.1:n.2194C>A

Protein change:

S400*

Molecular consequence:

NM_000179.3:c.2105C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001281492.2:c.1715C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001281493.2:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001281494.2:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406795.1:c.2201C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406796.1:c.2105C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406797.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406798.1:c.2105C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406799.1:c.1580C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406800.1:c.2105C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406801.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406802.1:c.2201C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406803.1:c.2105C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406804.1:c.2027C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406805.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406806.1:c.1580C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406807.1:c.1580C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406808.1:c.2105C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406809.1:c.2105C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406811.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406812.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406813.1:c.2111C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406814.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406815.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406816.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406818.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406819.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406820.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406821.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406822.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406823.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406824.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406825.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406826.1:c.1937C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406827.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406828.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406829.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406830.1:c.1808C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002730455	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 9, 2021)	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

SCV002730455

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 9, 2021)

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

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

Plaschke J, Krüger S, Dietmaier W, Gebert J, Sutter C, Mangold E, Pagenstecher C, Holinski-Feder E, Schulmann K, Möslein G, Rüschoff J, Engel C, Evans G, Schackert HK; German HNPCC Consortium..

Hum Mutat. 2004 Mar;23(3):285.

PubMed [citation]

PMID:: 14974087

Details of each submission

From Ambry Genetics, SCV002730455.2

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

Description

The p.S702* pathogenic mutation (also known as c.2105C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 2105. This changes the amino acid from a serine to a stop codon within coding exon 4. This variant has been reported in an individual with Lynch syndrome (Plaschke J et al. Hum Mutat, 2004 Mar;23:285). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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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Relating variation to medicine