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NM_000179.3(MSH6):c.683A>T (p.Glu228Val) AND Lynch syndrome 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 12, 2023
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:
RCV003142259.1

Allele description [Variation Report for NM_000179.3(MSH6):c.683A>T (p.Glu228Val)]

NM_000179.3(MSH6):c.683A>T (p.Glu228Val)

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.683A>T (p.Glu228Val)
HGVS:
  • NC_000002.12:g.47798666A>T
  • NG_007111.1:g.20520A>T
  • NM_000179.3:c.683A>TMANE SELECT
  • NM_001281492.2:c.293A>T
  • NM_001281493.2:c.-224A>T
  • NM_001281494.2:c.-224A>T
  • NM_001406795.1:c.779A>T
  • NM_001406796.1:c.683A>T
  • NM_001406797.1:c.386A>T
  • NM_001406798.1:c.683A>T
  • NM_001406799.1:c.158A>T
  • NM_001406800.1:c.683A>T
  • NM_001406801.1:c.386A>T
  • NM_001406802.1:c.779A>T
  • NM_001406803.1:c.683A>T
  • NM_001406804.1:c.605A>T
  • NM_001406805.1:c.386A>T
  • NM_001406806.1:c.158A>T
  • NM_001406807.1:c.158A>T
  • NM_001406808.1:c.683A>T
  • NM_001406809.1:c.683A>T
  • NM_001406811.1:c.-224A>T
  • NM_001406812.1:c.-224A>T
  • NM_001406813.1:c.689A>T
  • NM_001406814.1:c.-224A>T
  • NM_001406815.1:c.-224A>T
  • NM_001406816.1:c.-224A>T
  • NM_001406817.1:c.683A>T
  • NM_001406818.1:c.386A>T
  • NM_001406819.1:c.386A>T
  • NM_001406820.1:c.386A>T
  • NM_001406821.1:c.386A>T
  • NM_001406822.1:c.386A>T
  • NM_001406823.1:c.-224A>T
  • NM_001406824.1:c.386A>T
  • NM_001406825.1:c.386A>T
  • NM_001406826.1:c.515A>T
  • NM_001406827.1:c.386A>T
  • NM_001406828.1:c.386A>T
  • NM_001406829.1:c.-224A>T
  • NM_001406830.1:c.386A>T
  • NP_000170.1:p.Glu228Val
  • NP_000170.1:p.Glu228Val
  • NP_001268421.1:p.Glu98Val
  • NP_001393724.1:p.Glu260Val
  • NP_001393725.1:p.Glu228Val
  • NP_001393726.1:p.Glu129Val
  • NP_001393727.1:p.Glu228Val
  • NP_001393728.1:p.Glu53Val
  • NP_001393729.1:p.Glu228Val
  • NP_001393730.1:p.Glu129Val
  • NP_001393731.1:p.Glu260Val
  • NP_001393732.1:p.Glu228Val
  • NP_001393733.1:p.Glu202Val
  • NP_001393734.1:p.Glu129Val
  • NP_001393735.1:p.Glu53Val
  • NP_001393736.1:p.Glu53Val
  • NP_001393737.1:p.Glu228Val
  • NP_001393738.1:p.Glu228Val
  • NP_001393742.1:p.Glu230Val
  • NP_001393746.1:p.Glu228Val
  • NP_001393747.1:p.Glu129Val
  • NP_001393748.1:p.Glu129Val
  • NP_001393749.1:p.Glu129Val
  • NP_001393750.1:p.Glu129Val
  • NP_001393751.1:p.Glu129Val
  • NP_001393753.1:p.Glu129Val
  • NP_001393754.1:p.Glu129Val
  • NP_001393755.1:p.Glu172Val
  • NP_001393756.1:p.Glu129Val
  • NP_001393757.1:p.Glu129Val
  • NP_001393759.1:p.Glu129Val
  • LRG_219t1:c.683A>T
  • LRG_219:g.20520A>T
  • LRG_219p1:p.Glu228Val
  • NC_000002.11:g.48025805A>T
  • NM_000179.2:c.683A>T
  • NR_176257.1:n.772A>T
  • NR_176258.1:n.772A>T
  • NR_176259.1:n.772A>T
  • NR_176261.1:n.772A>T
Protein change:
E129V
Molecular consequence:
  • NM_001281493.2:c.-224A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281494.2:c.-224A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000179.3:c.683A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.293A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406795.1:c.779A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406796.1:c.683A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406797.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406798.1:c.683A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406799.1:c.158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406800.1:c.683A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406801.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406802.1:c.779A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406803.1:c.683A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406804.1:c.605A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406805.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406806.1:c.158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406807.1:c.158A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406808.1:c.683A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406809.1:c.683A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406813.1:c.689A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406817.1:c.683A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406818.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406819.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406820.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406821.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406822.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406824.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406825.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406826.1:c.515A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406827.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406828.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406830.1:c.386A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807701Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 12, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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, SCV003807701.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PM2 moderated, BP4 supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024