NM_000179.3(MSH6):c.676G>T (p.Glu226Ter) 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:: RCV003450301.1

Allele description [Variation Report for NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)]

NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)

HGVS:

NC_000002.12:g.47798659G>T
NG_007111.1:g.20513G>T
NM_000179.3:c.676G>TMANE SELECT
NM_001281492.2:c.286G>T
NM_001281493.2:c.-231G>T
NM_001281494.2:c.-231G>T
NM_001406795.1:c.772G>T
NM_001406796.1:c.676G>T
NM_001406797.1:c.379G>T
NM_001406798.1:c.676G>T
NM_001406799.1:c.151G>T
NM_001406800.1:c.676G>T
NM_001406801.1:c.379G>T
NM_001406802.1:c.772G>T
NM_001406803.1:c.676G>T
NM_001406804.1:c.598G>T
NM_001406805.1:c.379G>T
NM_001406806.1:c.151G>T
NM_001406807.1:c.151G>T
NM_001406808.1:c.676G>T
NM_001406809.1:c.676G>T
NM_001406811.1:c.-231G>T
NM_001406812.1:c.-231G>T
NM_001406813.1:c.682G>T
NM_001406814.1:c.-231G>T
NM_001406815.1:c.-231G>T
NM_001406816.1:c.-231G>T
NM_001406817.1:c.676G>T
NM_001406818.1:c.379G>T
NM_001406819.1:c.379G>T
NM_001406820.1:c.379G>T
NM_001406821.1:c.379G>T
NM_001406822.1:c.379G>T
NM_001406823.1:c.-231G>T
NM_001406824.1:c.379G>T
NM_001406825.1:c.379G>T
NM_001406826.1:c.508G>T
NM_001406827.1:c.379G>T
NM_001406828.1:c.379G>T
NM_001406829.1:c.-231G>T
NM_001406830.1:c.379G>T
NM_001407362.1:c.628-2007G>T
NP_000170.1:p.Glu226Ter
NP_000170.1:p.Glu226Ter
NP_001268421.1:p.Glu96Ter
NP_001393724.1:p.Glu258Ter
NP_001393725.1:p.Glu226Ter
NP_001393726.1:p.Glu127Ter
NP_001393727.1:p.Glu226Ter
NP_001393728.1:p.Glu51Ter
NP_001393729.1:p.Glu226Ter
NP_001393730.1:p.Glu127Ter
NP_001393731.1:p.Glu258Ter
NP_001393732.1:p.Glu226Ter
NP_001393733.1:p.Glu200Ter
NP_001393734.1:p.Glu127Ter
NP_001393735.1:p.Glu51Ter
NP_001393736.1:p.Glu51Ter
NP_001393737.1:p.Glu226Ter
NP_001393738.1:p.Glu226Ter
NP_001393742.1:p.Glu228Ter
NP_001393746.1:p.Glu226Ter
NP_001393747.1:p.Glu127Ter
NP_001393748.1:p.Glu127Ter
NP_001393749.1:p.Glu127Ter
NP_001393750.1:p.Glu127Ter
NP_001393751.1:p.Glu127Ter
NP_001393753.1:p.Glu127Ter
NP_001393754.1:p.Glu127Ter
NP_001393755.1:p.Glu170Ter
NP_001393756.1:p.Glu127Ter
NP_001393757.1:p.Glu127Ter
NP_001393759.1:p.Glu127Ter
LRG_219t1:c.676G>T
LRG_219:g.20513G>T
LRG_219p1:p.Glu226Ter
NC_000002.11:g.48025798G>T
NM_000179.2:c.676G>T
NR_176257.1:n.765G>T
NR_176258.1:n.765G>T
NR_176259.1:n.765G>T
NR_176261.1:n.765G>T

Protein change:

E127*

Molecular consequence:

NM_001281493.2:c.-231G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001281494.2:c.-231G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406811.1:c.-231G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406812.1:c.-231G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406814.1:c.-231G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406815.1:c.-231G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406816.1:c.-231G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406823.1:c.-231G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406829.1:c.-231G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407362.1:c.628-2007G>T - intron variant - [Sequence Ontology: SO:0001627]
NR_176257.1:n.765G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.765G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.765G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.765G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000179.3:c.676G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001281492.2:c.286G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406795.1:c.772G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406796.1:c.676G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406797.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406798.1:c.676G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406799.1:c.151G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406800.1:c.676G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406801.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406802.1:c.772G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406803.1:c.676G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406804.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406805.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406806.1:c.151G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406807.1:c.151G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406808.1:c.676G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406809.1:c.676G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406813.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406817.1:c.676G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406818.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406819.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406820.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406821.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406822.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406824.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406825.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406826.1:c.508G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406827.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406828.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406830.1:c.379G>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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Mesosutterella multiformis strain C6-BN-3-78 16S ribosomal RNA gene, partial seq...
Mesosutterella multiformis strain C6-BN-3-78 16S ribosomal RNA gene, partial sequence
gi|2792875552|gb|PQ236869.1|

Nucleotide
cystine knot toxin [Chilobrachys guangxiensis]
cystine knot toxin [Chilobrachys guangxiensis]
gi|165905986|gb|ABY71685.1|

Protein
OGDHL [Nyctereutes procyonoides]
OGDHL [Nyctereutes procyonoides]
Gene ID:129522709

Gene
matrix metallopeptidase 28 (epilysin), isoform CRA_e, partial [Mus musculus]
matrix metallopeptidase 28 (epilysin), isoform CRA_e, partial [Mus musculus]
gi|148683761|gb|EDL15708.1||gnl|WGS |mCP112000

Protein
matrix metalloproteinase-28 variant A precursor [Mus musculus]
matrix metalloproteinase-28 variant A precursor [Mus musculus]
gi|27461082|gb|AAL57761.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004187070	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

SCV004187070

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., SCV004187070.1

#	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 termination codon and is 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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