NM_000179.3(MSH6):c.703dup (p.Thr235fs) AND Lynch syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 10, 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:: RCV003450338.1

Allele description [Variation Report for NM_000179.3(MSH6):c.703dup (p.Thr235fs)]

NM_000179.3(MSH6):c.703dup (p.Thr235fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.703dup (p.Thr235fs)

HGVS:

NC_000002.12:g.47798686dup
NG_007111.1:g.20540dup
NM_000179.3:c.703dupMANE SELECT
NM_001281492.2:c.313dup
NM_001281493.2:c.-204dup
NM_001281494.2:c.-204dup
NM_001406795.1:c.799dup
NM_001406796.1:c.703dup
NM_001406797.1:c.406dup
NM_001406798.1:c.703dup
NM_001406799.1:c.178dup
NM_001406800.1:c.703dup
NM_001406801.1:c.406dup
NM_001406802.1:c.799dup
NM_001406803.1:c.703dup
NM_001406804.1:c.625dup
NM_001406805.1:c.406dup
NM_001406806.1:c.178dup
NM_001406807.1:c.178dup
NM_001406808.1:c.703dup
NM_001406809.1:c.703dup
NM_001406811.1:c.-204dup
NM_001406812.1:c.-204dup
NM_001406813.1:c.709dup
NM_001406814.1:c.-204dup
NM_001406815.1:c.-204dup
NM_001406816.1:c.-204dup
NM_001406817.1:c.703dup
NM_001406818.1:c.406dup
NM_001406819.1:c.406dup
NM_001406820.1:c.406dup
NM_001406821.1:c.406dup
NM_001406822.1:c.406dup
NM_001406823.1:c.-204dup
NM_001406824.1:c.406dup
NM_001406825.1:c.406dup
NM_001406826.1:c.535dup
NM_001406827.1:c.406dup
NM_001406828.1:c.406dup
NM_001406829.1:c.-204dup
NM_001406830.1:c.406dup
NM_001407362.1:c.628-1980dup
NP_000170.1:p.Thr235Asnfs
NP_000170.1:p.Thr235fs
NP_001268421.1:p.Thr105fs
NP_001393724.1:p.Thr267fs
NP_001393725.1:p.Thr235fs
NP_001393726.1:p.Thr136fs
NP_001393727.1:p.Thr235fs
NP_001393728.1:p.Thr60fs
NP_001393729.1:p.Thr235fs
NP_001393730.1:p.Thr136fs
NP_001393731.1:p.Thr267fs
NP_001393732.1:p.Thr235fs
NP_001393733.1:p.Thr209fs
NP_001393734.1:p.Thr136fs
NP_001393735.1:p.Thr60fs
NP_001393736.1:p.Thr60fs
NP_001393737.1:p.Thr235fs
NP_001393738.1:p.Thr235fs
NP_001393742.1:p.Thr237fs
NP_001393746.1:p.Thr235fs
NP_001393747.1:p.Thr136fs
NP_001393748.1:p.Thr136fs
NP_001393749.1:p.Thr136fs
NP_001393750.1:p.Thr136fs
NP_001393751.1:p.Thr136fs
NP_001393753.1:p.Thr136fs
NP_001393754.1:p.Thr136fs
NP_001393755.1:p.Thr179fs
NP_001393756.1:p.Thr136fs
NP_001393757.1:p.Thr136fs
NP_001393759.1:p.Thr136fs
LRG_219t1:c.703dup
LRG_219:g.20540dup
LRG_219p1:p.Thr235Asnfs
NC_000002.11:g.48025825dup
NM_000179.2:c.703dup
NR_176257.1:n.792dup
NR_176258.1:n.792dup
NR_176259.1:n.792dup
NR_176261.1:n.792dup

Protein change:

T105fs

Molecular consequence:

NM_001281493.2:c.-204dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001281494.2:c.-204dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406811.1:c.-204dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406812.1:c.-204dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406814.1:c.-204dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406815.1:c.-204dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406816.1:c.-204dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406823.1:c.-204dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406829.1:c.-204dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000179.3:c.703dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406795.1:c.799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406796.1:c.703dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406797.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406798.1:c.703dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406799.1:c.178dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406800.1:c.703dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406801.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406802.1:c.799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406803.1:c.703dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406804.1:c.625dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406805.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406806.1:c.178dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406807.1:c.178dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406808.1:c.703dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406809.1:c.703dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406813.1:c.709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406817.1:c.703dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406818.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406819.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406820.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406821.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406822.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406824.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406825.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406826.1:c.535dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406827.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406828.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406830.1:c.406dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407362.1:c.628-1980dup - intron variant - [Sequence Ontology: SO:0001627]
NR_176257.1:n.792dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.792dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.792dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.792dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004187182	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Aug 10, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004187182

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Aug 10, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004187182.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Oct 8, 2024

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