NM_000179.3(MSH6):c.706del (p.Gln236fs) AND Lynch syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 21, 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:: RCV003452213.1

Allele description [Variation Report for NM_000179.3(MSH6):c.706del (p.Gln236fs)]

NM_000179.3(MSH6):c.706del (p.Gln236fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.706del (p.Gln236fs)

HGVS:

NC_000002.12:g.47798689del
NG_007111.1:g.20543del
NM_000179.3:c.706delMANE SELECT
NM_001281492.2:c.316del
NM_001281493.2:c.-201del
NM_001281494.2:c.-201del
NM_001406795.1:c.802del
NM_001406796.1:c.706del
NM_001406797.1:c.409del
NM_001406798.1:c.706del
NM_001406799.1:c.181del
NM_001406800.1:c.706del
NM_001406801.1:c.409del
NM_001406802.1:c.802del
NM_001406803.1:c.706del
NM_001406804.1:c.628del
NM_001406805.1:c.409del
NM_001406806.1:c.181del
NM_001406807.1:c.181del
NM_001406808.1:c.706del
NM_001406809.1:c.706del
NM_001406811.1:c.-201del
NM_001406812.1:c.-201del
NM_001406813.1:c.712del
NM_001406814.1:c.-201del
NM_001406815.1:c.-201del
NM_001406816.1:c.-201del
NM_001406817.1:c.706del
NM_001406818.1:c.409del
NM_001406819.1:c.409del
NM_001406820.1:c.409del
NM_001406821.1:c.409del
NM_001406822.1:c.409del
NM_001406823.1:c.-201del
NM_001406824.1:c.409del
NM_001406825.1:c.409del
NM_001406826.1:c.538del
NM_001406827.1:c.409del
NM_001406828.1:c.409del
NM_001406829.1:c.-201del
NM_001406830.1:c.409del
NM_001407362.1:c.628-1977del
NP_000170.1:p.Gln236Lysfs
NP_000170.1:p.Gln236fs
NP_001268421.1:p.Gln106fs
NP_001393724.1:p.Gln268fs
NP_001393725.1:p.Gln236fs
NP_001393726.1:p.Gln137fs
NP_001393727.1:p.Gln236fs
NP_001393728.1:p.Gln61fs
NP_001393729.1:p.Gln236fs
NP_001393730.1:p.Gln137fs
NP_001393731.1:p.Gln268fs
NP_001393732.1:p.Gln236fs
NP_001393733.1:p.Gln210fs
NP_001393734.1:p.Gln137fs
NP_001393735.1:p.Gln61fs
NP_001393736.1:p.Gln61fs
NP_001393737.1:p.Gln236fs
NP_001393738.1:p.Gln236fs
NP_001393742.1:p.Gln238fs
NP_001393746.1:p.Gln236fs
NP_001393747.1:p.Gln137fs
NP_001393748.1:p.Gln137fs
NP_001393749.1:p.Gln137fs
NP_001393750.1:p.Gln137fs
NP_001393751.1:p.Gln137fs
NP_001393753.1:p.Gln137fs
NP_001393754.1:p.Gln137fs
NP_001393755.1:p.Gln180fs
NP_001393756.1:p.Gln137fs
NP_001393757.1:p.Gln137fs
NP_001393759.1:p.Gln137fs
LRG_219t1:c.706del
LRG_219:g.20543del
LRG_219p1:p.Gln236Lysfs
NC_000002.11:g.48025828del
NM_000179.2:c.706delC
NR_176257.1:n.795del
NR_176258.1:n.795del
NR_176259.1:n.795del
NR_176261.1:n.795del

Protein change:

Q106fs

Molecular consequence:

NM_001281493.2:c.-201del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001281494.2:c.-201del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406811.1:c.-201del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406812.1:c.-201del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406814.1:c.-201del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406815.1:c.-201del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406816.1:c.-201del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406823.1:c.-201del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406829.1:c.-201del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000179.3:c.706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.316del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406795.1:c.802del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406796.1:c.706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406797.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406798.1:c.706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406799.1:c.181del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406800.1:c.706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406801.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406802.1:c.802del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406803.1:c.706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406804.1:c.628del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406805.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406806.1:c.181del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406807.1:c.181del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406808.1:c.706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406809.1:c.706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406813.1:c.712del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406817.1:c.706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406818.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406819.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406820.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406821.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406822.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406824.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406825.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406826.1:c.538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406827.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406828.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406830.1:c.409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407362.1:c.628-1977del - intron variant - [Sequence Ontology: SO:0001627]
NR_176257.1:n.795del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.795del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.795del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.795del - 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
SCV004186026	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Nov 21, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004186026

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Nov 21, 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., SCV004186026.1

#	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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