NM_000179.3(MSH6):c.2253T>C (p.Asn751=) AND Lynch syndrome

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 5, 2013
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000030262.17

Allele description [Variation Report for NM_000179.3(MSH6):c.2253T>C (p.Asn751=)]

NM_000179.3(MSH6):c.2253T>C (p.Asn751=)

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.2253T>C (p.Asn751=)

HGVS:

NC_000002.12:g.47800236T>C
NG_007111.1:g.22090T>C
NM_000179.3:c.2253T>CMANE SELECT
NM_001281492.2:c.1863T>C
NM_001281493.2:c.1347T>C
NM_001281494.2:c.1347T>C
NP_000170.1:p.Asn751=
NP_000170.1:p.Asn751=
NP_001268421.1:p.Asn621=
NP_001268422.1:p.Asn449=
NP_001268423.1:p.Asn449=
LRG_219t1:c.2253T>C
LRG_219:g.22090T>C
LRG_219p1:p.Asn751=
NC_000002.11:g.48027375T>C
NM_000179.2:c.2253T>C
NP_000170.1:p.(=)
p.N751N

Links:

dbSNP: rs2020913

NCBI 1000 Genomes Browser:

rs2020913

Molecular consequence:

NM_000179.3:c.2253T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001281492.2:c.1863T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001281493.2:c.1347T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001281494.2:c.1347T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Name:: Lynch syndrome
Identifiers:: MONDO: MONDO:0005835; MedGen: C4552100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052929	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	benign (Aug 18, 2011)	germline	curation, clinical testing	PubMed (2) [See all records that cite these PMIDs] 10537275, 16929514 Citation Link,
SCV000107936	International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	reviewed by expert panel (Guidelines v1.9)	no known pathogenicity (Sep 5, 2013)	germline	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052929

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

benign
(Aug 18, 2011)

germline

curation, clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000107936

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v1.9)

no known pathogenicity
(Sep 5, 2013)

germline

research

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	curation
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

Germ-line msh6 mutations in colorectal cancer families.

Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, Wahlberg S, Fox EA, Peel D, Ziogas A, Garber JE, Syngal S, Anton-Culver H, Li FP.

Cancer Res. 1999 Oct 15;59(20):5068-74.

PubMed [citation]

PMID:: 10537275

Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China.

Zhang Y, Liu X, Fan Y, Ding J, Xu A, Zhou X, Hu X, Zhu M, Zhang X, Li S, Wu J, Cao H, Li J, Wang Y.

Int J Cancer. 2006 Dec 1;119(11):2592-6.

PubMed [citation]

PMID:: 16929514

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052929.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)
2	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)
3	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Converted during submission to Benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	not provided
2	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 2
3	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 3

Co-occurrences

#	Zygosity	Alleles	Number of Observations
2	SingleHeterozygote	MLH1:c.1668-19A>G, MSH2:c.1661+12G>A, MSH2:c.211+9C>G, MSH2:c.860dupG	1
3	SingleHeterozygote	MLH1:c.1668-19A>G, MLH1:c.655A>G, MSH6:c.540T>C, MSH6:c.3438+14A>T, MSH6:c.276A>G	1

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107936.3

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

Description

MAF >1%

#	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 7, 2024

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