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NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val) AND Lynch syndrome 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 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:
RCV002243889.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val)]

NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val)

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.3598A>G (p.Ile1200Val)
HGVS:
  • NC_000002.12:g.47805659A>G
  • NG_007111.1:g.27513A>G
  • NG_008397.1:g.105017T>C
  • NM_000179.3:c.3598A>GMANE SELECT
  • NM_001281492.2:c.3208A>G
  • NM_001281493.2:c.2692A>G
  • NM_001281494.2:c.2692A>G
  • NP_000170.1:p.Ile1200Val
  • NP_000170.1:p.Ile1200Val
  • NP_001268421.1:p.Ile1070Val
  • NP_001268422.1:p.Ile898Val
  • NP_001268423.1:p.Ile898Val
  • LRG_219t1:c.3598A>G
  • LRG_219:g.27513A>G
  • LRG_219p1:p.Ile1200Val
  • NC_000002.11:g.48032798A>G
  • NM_000179.2:c.3598A>G
Protein change:
I1070V
Links:
dbSNP: rs781627838
NCBI 1000 Genomes Browser:
rs781627838
Molecular consequence:
  • NM_000179.3:c.3598A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.3208A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.2692A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.2692A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002512750Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 26, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512750.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PM2 moderate, BP4 supporting

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

Last Updated: Jun 17, 2024