NM_000179.3(MSH6):c.3008dup (p.Cys1003fs) AND Lynch syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 6, 2024
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:: RCV004791908.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3008dup (p.Cys1003fs)]

NM_000179.3(MSH6):c.3008dup (p.Cys1003fs)

Gene:

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

Variant type:

Duplication

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3008dup (p.Cys1003fs)

HGVS:

NC_000002.12:g.47800991dup
NG_007111.1:g.22845dup
NM_000179.3:c.3008dupMANE SELECT
NM_001281492.2:c.2618dup
NM_001281493.2:c.2102dup
NM_001281494.2:c.2102dup
NM_001406795.1:c.3104dup
NM_001406796.1:c.3008dup
NM_001406797.1:c.2711dup
NM_001406798.1:c.3008dup
NM_001406799.1:c.2483dup
NM_001406800.1:c.3008dup
NM_001406801.1:c.2711dup
NM_001406802.1:c.3104dup
NM_001406803.1:c.2308+700dup
NM_001406804.1:c.2930dup
NM_001406805.1:c.2711dup
NM_001406806.1:c.2483dup
NM_001406807.1:c.2483dup
NM_001406808.1:c.3008dup
NM_001406809.1:c.3008dup
NM_001406811.1:c.2102dup
NM_001406812.1:c.2102dup
NM_001406813.1:c.3014dup
NM_001406814.1:c.2102dup
NM_001406815.1:c.2102dup
NM_001406816.1:c.2102dup
NM_001406817.1:c.1606+1402dup
NM_001406818.1:c.2711dup
NM_001406819.1:c.2711dup
NM_001406820.1:c.2711dup
NM_001406821.1:c.2711dup
NM_001406822.1:c.2711dup
NM_001406823.1:c.2102dup
NM_001406824.1:c.2711dup
NM_001406825.1:c.2711dup
NM_001406826.1:c.2840dup
NM_001406827.1:c.2711dup
NM_001406828.1:c.2711dup
NM_001406829.1:c.2102dup
NM_001406830.1:c.2711dup
NM_001407362.1:c.953dup
NP_000170.1:p.Cys1003Trpfs
NP_000170.1:p.Cys1003fs
NP_001268421.1:p.Cys873fs
NP_001268422.1:p.Cys701fs
NP_001268423.1:p.Cys701fs
NP_001393724.1:p.Cys1035fs
NP_001393725.1:p.Cys1003fs
NP_001393726.1:p.Cys904fs
NP_001393727.1:p.Cys1003fs
NP_001393728.1:p.Cys828fs
NP_001393729.1:p.Cys1003fs
NP_001393730.1:p.Cys904fs
NP_001393731.1:p.Cys1035fs
NP_001393733.1:p.Cys977fs
NP_001393734.1:p.Cys904fs
NP_001393735.1:p.Cys828fs
NP_001393736.1:p.Cys828fs
NP_001393737.1:p.Cys1003fs
NP_001393738.1:p.Cys1003fs
NP_001393740.1:p.Cys701fs
NP_001393741.1:p.Cys701fs
NP_001393742.1:p.Cys1005fs
NP_001393743.1:p.Cys701fs
NP_001393744.1:p.Cys701fs
NP_001393745.1:p.Cys701fs
NP_001393747.1:p.Cys904fs
NP_001393748.1:p.Cys904fs
NP_001393749.1:p.Cys904fs
NP_001393750.1:p.Cys904fs
NP_001393751.1:p.Cys904fs
NP_001393752.1:p.Cys701fs
NP_001393753.1:p.Cys904fs
NP_001393754.1:p.Cys904fs
NP_001393755.1:p.Cys947fs
NP_001393756.1:p.Cys904fs
NP_001393757.1:p.Cys904fs
NP_001393758.1:p.Cys701fs
NP_001393759.1:p.Cys904fs
NP_001394291.1:p.Cys318fs
LRG_219t1:c.3008dup
LRG_219:g.22845dup
LRG_219p1:p.Cys1003Trpfs
NC_000002.11:g.48028130dup
NM_000179.2:c.3008dup
NR_176256.1:n.1870dup
NR_176257.1:n.3097dup
NR_176258.1:n.3097dup
NR_176259.1:n.3097dup
NR_176261.1:n.3097dup

Protein change:

C1003fs

Molecular consequence:

NM_000179.3:c.3008dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.2618dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406795.1:c.3104dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406796.1:c.3008dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406797.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406798.1:c.3008dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406799.1:c.2483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406800.1:c.3008dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406801.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406802.1:c.3104dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406804.1:c.2930dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406805.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406806.1:c.2483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406807.1:c.2483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406808.1:c.3008dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406809.1:c.3008dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406811.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406812.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406813.1:c.3014dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406814.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406815.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406816.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406818.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406819.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406820.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406821.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406822.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406823.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406824.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406825.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406826.1:c.2840dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406827.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406828.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406829.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406830.1:c.2711dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407362.1:c.953dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406803.1:c.2308+700dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406817.1:c.1606+1402dup - intron variant - [Sequence Ontology: SO:0001627]
NR_176256.1:n.1870dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176257.1:n.3097dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.3097dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.3097dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.3097dup - 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
SCV005404953	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Aug 6, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005404953

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Aug 6, 2024)

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., SCV005404953.1

#	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: Nov 24, 2024

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