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NM_000179.3(MSH6):c.183G>C (p.Ala61=) AND Lynch syndrome 5

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000986697.1

Allele description [Variation Report for NM_000179.3(MSH6):c.183G>C (p.Ala61=)]

NM_000179.3(MSH6):c.183G>C (p.Ala61=)

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.183G>C (p.Ala61=)
HGVS:
  • NC_000002.12:g.47783416G>C
  • NG_007111.1:g.5270G>C
  • NM_000179.3:c.183G>CMANE SELECT
  • NM_001281492.2:c.183G>C
  • NM_001281493.2:c.-554G>C
  • NP_000170.1:p.Ala61=
  • NP_000170.1:p.Ala61=
  • NP_001268421.1:p.Ala61=
  • LRG_219t1:c.183G>C
  • LRG_219:g.5270G>C
  • LRG_219p1:p.Ala61=
  • NC_000002.11:g.48010555G>C
  • NM_000179.2:c.183G>C
Links:
dbSNP: rs1060504757
NCBI 1000 Genomes Browser:
rs1060504757
Molecular consequence:
  • NM_001281493.2:c.-554G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000179.3:c.183G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281492.2:c.183G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Lynch syndrome 5 (LYNCH5)
Synonyms:
Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary non-polyposis colorectal cancer, type 5
Identifiers:
MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001135777Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001135777.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024