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NM_000179.3(MSH6):c.3522dup (p.Thr1175fs) 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:
RCV003229517.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3522dup (p.Thr1175fs)]

NM_000179.3(MSH6):c.3522dup (p.Thr1175fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3522dup (p.Thr1175fs)
HGVS:
  • NC_000002.12:g.47804993dup
  • NG_007111.1:g.26847dup
  • NG_008397.1:g.105685dup
  • NM_000179.3:c.3522dupMANE SELECT
  • NM_001281492.2:c.3132dup
  • NM_001281493.2:c.2616dup
  • NM_001281494.2:c.2616dup
  • NM_001406795.1:c.3618dup
  • NM_001406796.1:c.3522dup
  • NM_001406797.1:c.3225dup
  • NM_001406798.1:c.3348dup
  • NM_001406799.1:c.2997dup
  • NM_001406800.1:c.3522dup
  • NM_001406801.1:c.3225dup
  • NM_001406802.1:c.3618dup
  • NM_001406803.1:c.2658dup
  • NM_001406804.1:c.3444dup
  • NM_001406805.1:c.3225dup
  • NM_001406806.1:c.2997dup
  • NM_001406807.1:c.2997dup
  • NM_001406808.1:c.3522dup
  • NM_001406809.1:c.3522dup
  • NM_001406811.1:c.2616dup
  • NM_001406812.1:c.2616dup
  • NM_001406813.1:c.3528dup
  • NM_001406814.1:c.2616dup
  • NM_001406815.1:c.2616dup
  • NM_001406816.1:c.2616dup
  • NM_001406817.1:c.1956dup
  • NM_001406818.1:c.3225dup
  • NM_001406819.1:c.3225dup
  • NM_001406820.1:c.3225dup
  • NM_001406821.1:c.3225dup
  • NM_001406822.1:c.3225dup
  • NM_001406823.1:c.2616dup
  • NM_001406824.1:c.3225dup
  • NM_001406825.1:c.3225dup
  • NM_001406826.1:c.3354dup
  • NM_001406827.1:c.3225dup
  • NM_001406828.1:c.3225dup
  • NM_001406829.1:c.2616dup
  • NM_001406830.1:c.3225dup
  • NM_001406831.1:c.303dup
  • NM_001406832.1:c.369dup
  • NM_001407362.1:c.1467dup
  • NP_000170.1:p.Thr1175Tyrfs
  • NP_000170.1:p.Thr1175fs
  • NP_001268421.1:p.Thr1045fs
  • NP_001268422.1:p.Thr873fs
  • NP_001268423.1:p.Thr873fs
  • NP_001393724.1:p.Thr1207fs
  • NP_001393725.1:p.Thr1175fs
  • NP_001393726.1:p.Thr1076fs
  • NP_001393727.1:p.Thr1117fs
  • NP_001393728.1:p.Thr1000fs
  • NP_001393729.1:p.Thr1175fs
  • NP_001393730.1:p.Thr1076fs
  • NP_001393731.1:p.Thr1207fs
  • NP_001393732.1:p.Thr887fs
  • NP_001393733.1:p.Thr1149fs
  • NP_001393734.1:p.Thr1076fs
  • NP_001393735.1:p.Thr1000fs
  • NP_001393736.1:p.Thr1000fs
  • NP_001393737.1:p.Thr1175fs
  • NP_001393738.1:p.Thr1175fs
  • NP_001393740.1:p.Thr873fs
  • NP_001393741.1:p.Thr873fs
  • NP_001393742.1:p.Thr1177fs
  • NP_001393743.1:p.Thr873fs
  • NP_001393744.1:p.Thr873fs
  • NP_001393745.1:p.Thr873fs
  • NP_001393746.1:p.Thr653fs
  • NP_001393747.1:p.Thr1076fs
  • NP_001393748.1:p.Thr1076fs
  • NP_001393749.1:p.Thr1076fs
  • NP_001393750.1:p.Thr1076fs
  • NP_001393751.1:p.Thr1076fs
  • NP_001393752.1:p.Thr873fs
  • NP_001393753.1:p.Thr1076fs
  • NP_001393754.1:p.Thr1076fs
  • NP_001393755.1:p.Thr1119fs
  • NP_001393756.1:p.Thr1076fs
  • NP_001393757.1:p.Thr1076fs
  • NP_001393758.1:p.Thr873fs
  • NP_001393759.1:p.Thr1076fs
  • NP_001393760.1:p.Thr102fs
  • NP_001393761.1:p.Thr124fs
  • NP_001394291.1:p.Thr490fs
  • LRG_219t1:c.3522dup
  • LRG_219:g.26847dup
  • LRG_219p1:p.Thr1175Tyrfs
  • NC_000002.11:g.48032132dup
  • NM_000179.2:c.3522dup
  • NR_176256.1:n.2452dup
  • NR_176257.1:n.3783dup
  • NR_176258.1:n.3712dup
  • NR_176259.1:n.3611dup
  • NR_176260.1:n.1556dup
Protein change:
T1000fs
Molecular consequence:
  • NM_000179.3:c.3522dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406795.1:c.3618dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406796.1:c.3522dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406797.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406798.1:c.3348dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406799.1:c.2997dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406800.1:c.3522dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406801.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406802.1:c.3618dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406803.1:c.2658dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406804.1:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406805.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406806.1:c.2997dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406807.1:c.2997dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406808.1:c.3522dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406809.1:c.3522dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406811.1:c.2616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406812.1:c.2616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406813.1:c.3528dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406814.1:c.2616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406815.1:c.2616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406816.1:c.2616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406817.1:c.1956dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406818.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406819.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406820.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406821.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406822.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406823.1:c.2616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406824.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406825.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406826.1:c.3354dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406827.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406828.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406829.1:c.2616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406830.1:c.3225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406831.1:c.303dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406832.1:c.369dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407362.1:c.1467dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_176256.1:n.2452dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176257.1:n.3783dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176258.1:n.3712dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176259.1:n.3611dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003925765Genetics and Personalized Medicine Clinic, Tartu University Hospital
no assertion criteria provided
Likely pathogenicgermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetics and Personalized Medicine Clinic, Tartu University Hospital, SCV003925765.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

Endometrial cancer and Breast cancer, in family history unknown reproductive organ cancers

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

Last Updated: Jun 9, 2024