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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:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000805849PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Apr 21, 2017)
germlineclinical testing

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

SCV000889459Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Likely benign
(Aug 19, 2022)
unknownclinical testing

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

SCV004146075CeGaT 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)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004146075.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

MSH6: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 20, 2024