NM_000179.3(MSH6):c.1998dup (p.Asp667Ter) 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:: RCV003229516.1

Allele description [Variation Report for NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)]

NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)

HGVS:

NC_000002.12:g.47799981dup
NG_007111.1:g.21835dup
NM_000179.3:c.1998dupMANE SELECT
NM_001281492.2:c.1608dup
NM_001281493.2:c.1092dup
NM_001281494.2:c.1092dup
NM_001406795.1:c.2094dup
NM_001406796.1:c.1998dup
NM_001406797.1:c.1701dup
NM_001406798.1:c.1998dup
NM_001406799.1:c.1473dup
NM_001406800.1:c.1998dup
NM_001406801.1:c.1701dup
NM_001406802.1:c.2094dup
NM_001406803.1:c.1998dup
NM_001406804.1:c.1920dup
NM_001406805.1:c.1701dup
NM_001406806.1:c.1473dup
NM_001406807.1:c.1473dup
NM_001406808.1:c.1998dup
NM_001406809.1:c.1998dup
NM_001406811.1:c.1092dup
NM_001406812.1:c.1092dup
NM_001406813.1:c.2004dup
NM_001406814.1:c.1092dup
NM_001406815.1:c.1092dup
NM_001406816.1:c.1092dup
NM_001406817.1:c.1606+392dup
NM_001406818.1:c.1701dup
NM_001406819.1:c.1701dup
NM_001406820.1:c.1701dup
NM_001406821.1:c.1701dup
NM_001406822.1:c.1701dup
NM_001406823.1:c.1092dup
NM_001406824.1:c.1701dup
NM_001406825.1:c.1701dup
NM_001406826.1:c.1830dup
NM_001406827.1:c.1701dup
NM_001406828.1:c.1701dup
NM_001406829.1:c.1092dup
NM_001406830.1:c.1701dup
NM_001407362.1:c.628-685dup
NP_000170.1:p.Asp667Ter
NP_000170.1:p.Asp667Terfs
NP_001268421.1:p.Asp537Ter
NP_001268422.1:p.Asp365Ter
NP_001268423.1:p.Asp365Ter
NP_001393724.1:p.Asp699Ter
NP_001393725.1:p.Asp667Ter
NP_001393726.1:p.Asp568Ter
NP_001393727.1:p.Asp667Ter
NP_001393728.1:p.Asp492Ter
NP_001393729.1:p.Asp667Ter
NP_001393730.1:p.Asp568Ter
NP_001393731.1:p.Asp699Ter
NP_001393732.1:p.Asp667Ter
NP_001393733.1:p.Asp641Ter
NP_001393734.1:p.Asp568Ter
NP_001393735.1:p.Asp492Ter
NP_001393736.1:p.Asp492Ter
NP_001393737.1:p.Asp667Ter
NP_001393738.1:p.Asp667Ter
NP_001393740.1:p.Asp365Ter
NP_001393741.1:p.Asp365Ter
NP_001393742.1:p.Asp669Ter
NP_001393743.1:p.Asp365Ter
NP_001393744.1:p.Asp365Ter
NP_001393745.1:p.Asp365Ter
NP_001393747.1:p.Asp568Ter
NP_001393748.1:p.Asp568Ter
NP_001393749.1:p.Asp568Ter
NP_001393750.1:p.Asp568Ter
NP_001393751.1:p.Asp568Ter
NP_001393752.1:p.Asp365Ter
NP_001393753.1:p.Asp568Ter
NP_001393754.1:p.Asp568Ter
NP_001393755.1:p.Asp611Ter
NP_001393756.1:p.Asp568Ter
NP_001393757.1:p.Asp568Ter
NP_001393758.1:p.Asp365Ter
NP_001393759.1:p.Asp568Ter
LRG_219t1:c.1998dup
LRG_219:g.21835dup
LRG_219p1:p.Asp667Terfs
NC_000002.11:g.48027120dup
NM_000179.2:c.1998dup
NR_176256.1:n.860dup
NR_176257.1:n.2087dup
NR_176258.1:n.2087dup
NR_176259.1:n.2087dup
NR_176261.1:n.2087dup

Protein change:

D365*

Molecular consequence:

NM_001406817.1:c.1606+392dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407362.1:c.628-685dup - intron variant - [Sequence Ontology: SO:0001627]
NR_176256.1:n.860dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176257.1:n.2087dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.2087dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.2087dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.2087dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000179.3:c.1998dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001281492.2:c.1608dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001281493.2:c.1092dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001281494.2:c.1092dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406795.1:c.2094dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406796.1:c.1998dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406797.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406798.1:c.1998dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406799.1:c.1473dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406800.1:c.1998dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406801.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406802.1:c.2094dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406803.1:c.1998dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406804.1:c.1920dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406805.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406806.1:c.1473dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406807.1:c.1473dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406808.1:c.1998dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406809.1:c.1998dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406811.1:c.1092dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406812.1:c.1092dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406813.1:c.2004dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406814.1:c.1092dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406815.1:c.1092dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406816.1:c.1092dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406818.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406819.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406820.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406821.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406822.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406823.1:c.1092dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406824.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406825.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406826.1:c.1830dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406827.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406828.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406829.1:c.1092dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406830.1:c.1701dup - nonsense - [Sequence Ontology: SO:0001587]

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

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follistatin-like 3 (secreted glycoprotein), isoform CRA_a [Homo sapiens]
follistatin-like 3 (secreted glycoprotein), isoform CRA_a [Homo sapiens]
gi|119581569|gb|EAW61165.1||gnl|WGS |hCP1860569

Protein
Chain L, Centromere protein C
Chain L, Centromere protein C
gi|2245355247|pdb|7PII|L

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003925766	Genetics and Personalized Medicine Clinic, Tartu University Hospital	no assertion criteria provided	Likely pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003925766

Genetics and Personalized Medicine Clinic, Tartu University Hospital

no assertion criteria provided

Likely pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetics and Personalized Medicine Clinic, Tartu University Hospital, SCV003925766.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	not provided

Description

The patient has CMMRD (published case: doi: 10.1080/0284186X.2016.1226516). Her half-brother from her mother`s side has NF1. Father`s mother had EC, and her son had CRC. Mother`s mother had leukaemia.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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