NM_000179.3(MSH6):c.178T>C (p.Leu60=) AND not provided

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Jan 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000679218.20

Allele description [Variation Report for NM_000179.3(MSH6):c.178T>C (p.Leu60=)]

NM_000179.3(MSH6):c.178T>C (p.Leu60=)

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.178T>C (p.Leu60=)

Other names:

p.L60L:TTG>CTG

HGVS:

NC_000002.12:g.47783411T>C
NG_007111.1:g.5265T>C
NM_000179.3:c.178T>CMANE SELECT
NM_001281492.2:c.178T>C
NM_001281493.2:c.-559T>C
NP_000170.1:p.Leu60=
NP_000170.1:p.Leu60=
NP_001268421.1:p.Leu60=
LRG_219t1:c.178T>C
LRG_219:g.5265T>C
LRG_219p1:p.Leu60=
NC_000002.11:g.48010550T>C
NM_000179.2:c.178T>C
p.L60L
p.Leu60Leu

Links:

dbSNP: rs35819209

NCBI 1000 Genomes Browser:

rs35819209

Molecular consequence:

NM_001281493.2:c.-559T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000179.3:c.178T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001281492.2:c.178T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000805849	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 21, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000889459	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Aug 19, 2022)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15872200, 26635394, 26467025
SCV004146075	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jan 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000805849

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 21, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000889459

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Aug 19, 2022)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV004146075

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jan 1, 2023)

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	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A.

N Engl J Med. 2005 May 5;352(18):1851-60.

PubMed [citation]

PMID:: 15872200

See all PubMed Citations (4)

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000805849.1

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889459.3

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004146075.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

MSH6: BP4, BP7

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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