U.S. flag

An official website of the United States government

NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys) AND Lynch syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003229514.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)]

NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)

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.2308G>T (p.Gly770Cys)
HGVS:
  • NC_000002.12:g.47800291G>T
  • NG_007111.1:g.22145G>T
  • NM_000179.3:c.2308G>TMANE SELECT
  • NM_001281492.2:c.1918G>T
  • NM_001281493.2:c.1402G>T
  • NM_001281494.2:c.1402G>T
  • NM_001406795.1:c.2404G>T
  • NM_001406796.1:c.2308G>T
  • NM_001406797.1:c.2011G>T
  • NM_001406798.1:c.2308G>T
  • NM_001406799.1:c.1783G>T
  • NM_001406800.1:c.2308G>T
  • NM_001406801.1:c.2011G>T
  • NM_001406802.1:c.2404G>T
  • NM_001406803.1:c.2308G>T
  • NM_001406804.1:c.2230G>T
  • NM_001406805.1:c.2011G>T
  • NM_001406806.1:c.1783G>T
  • NM_001406807.1:c.1783G>T
  • NM_001406808.1:c.2308G>T
  • NM_001406809.1:c.2308G>T
  • NM_001406811.1:c.1402G>T
  • NM_001406812.1:c.1402G>T
  • NM_001406813.1:c.2314G>T
  • NM_001406814.1:c.1402G>T
  • NM_001406815.1:c.1402G>T
  • NM_001406816.1:c.1402G>T
  • NM_001406817.1:c.1606+702G>T
  • NM_001406818.1:c.2011G>T
  • NM_001406819.1:c.2011G>T
  • NM_001406820.1:c.2011G>T
  • NM_001406821.1:c.2011G>T
  • NM_001406822.1:c.2011G>T
  • NM_001406823.1:c.1402G>T
  • NM_001406824.1:c.2011G>T
  • NM_001406825.1:c.2011G>T
  • NM_001406826.1:c.2140G>T
  • NM_001406827.1:c.2011G>T
  • NM_001406828.1:c.2011G>T
  • NM_001406829.1:c.1402G>T
  • NM_001406830.1:c.2011G>T
  • NM_001407362.1:c.628-375G>T
  • NP_000170.1:p.Gly770Cys
  • NP_000170.1:p.Gly770Cys
  • NP_001268421.1:p.Gly640Cys
  • NP_001268422.1:p.Gly468Cys
  • NP_001268423.1:p.Gly468Cys
  • NP_001393724.1:p.Gly802Cys
  • NP_001393725.1:p.Gly770Cys
  • NP_001393726.1:p.Gly671Cys
  • NP_001393727.1:p.Gly770Cys
  • NP_001393728.1:p.Gly595Cys
  • NP_001393729.1:p.Gly770Cys
  • NP_001393730.1:p.Gly671Cys
  • NP_001393731.1:p.Gly802Cys
  • NP_001393732.1:p.Asp770Tyr
  • NP_001393733.1:p.Gly744Cys
  • NP_001393734.1:p.Gly671Cys
  • NP_001393735.1:p.Gly595Cys
  • NP_001393736.1:p.Gly595Cys
  • NP_001393737.1:p.Gly770Cys
  • NP_001393738.1:p.Gly770Cys
  • NP_001393740.1:p.Gly468Cys
  • NP_001393741.1:p.Gly468Cys
  • NP_001393742.1:p.Gly772Cys
  • NP_001393743.1:p.Gly468Cys
  • NP_001393744.1:p.Gly468Cys
  • NP_001393745.1:p.Gly468Cys
  • NP_001393747.1:p.Gly671Cys
  • NP_001393748.1:p.Gly671Cys
  • NP_001393749.1:p.Gly671Cys
  • NP_001393750.1:p.Gly671Cys
  • NP_001393751.1:p.Gly671Cys
  • NP_001393752.1:p.Gly468Cys
  • NP_001393753.1:p.Gly671Cys
  • NP_001393754.1:p.Gly671Cys
  • NP_001393755.1:p.Gly714Cys
  • NP_001393756.1:p.Gly671Cys
  • NP_001393757.1:p.Gly671Cys
  • NP_001393758.1:p.Gly468Cys
  • NP_001393759.1:p.Gly671Cys
  • LRG_219t1:c.2308G>T
  • LRG_219:g.22145G>T
  • LRG_219p1:p.Gly770Cys
  • NC_000002.11:g.48027430G>T
  • NM_000179.2:c.2308G>T
  • NR_176256.1:n.1170G>T
  • NR_176257.1:n.2397G>T
  • NR_176258.1:n.2397G>T
  • NR_176259.1:n.2397G>T
  • NR_176261.1:n.2397G>T
Protein change:
D770Y
Molecular consequence:
  • NM_001406817.1:c.1606+702G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407362.1:c.628-375G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000179.3:c.2308G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406795.1:c.2404G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406796.1:c.2308G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406797.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406798.1:c.2308G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406799.1:c.1783G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406800.1:c.2308G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406801.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406802.1:c.2404G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406803.1:c.2308G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406804.1:c.2230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406805.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406806.1:c.1783G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406807.1:c.1783G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406808.1:c.2308G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406809.1:c.2308G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406811.1:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406812.1:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406813.1:c.2314G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406814.1:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406815.1:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406816.1:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406818.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406819.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406820.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406821.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406822.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406823.1:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406824.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406825.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406826.1:c.2140G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406827.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406828.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406829.1:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406830.1:c.2011G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176256.1:n.1170G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176257.1:n.2397G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176258.1:n.2397G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176259.1:n.2397G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176261.1:n.2397G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Lynch syndrome 1
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003925764Genetics and Personalized Medicine Clinic, Tartu University Hospital
no assertion criteria provided
Likely pathogenicgermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetics and Personalized Medicine Clinic, Tartu University Hospital, SCV003925764.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

Endometrial cancer and colorectal cancer, patient mother had breast cancer

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

Last Updated: Jun 9, 2024