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NM_001128425.1(MUTYH):c.859del (p.Ala287fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jul 4, 2021)
Last evaluated:
Aug 1, 2020
Accession:
VCV000433934.12
Variation ID:
433934
Description:
1bp deletion
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NM_001128425.1(MUTYH):c.859del (p.Ala287fs)

Allele ID
427132
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45332240 (GRCh38) GRCh38 UCSC
1: 45797912 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_220t1:c.859del LRG_220p1:p.Ala287fs
LRG_220:g.13231del
NM_001128425.1:c.859delG frameshift
... more HGVS
Protein change
A273fs, A274fs, A270fs, A144fs, A260fs, A287fs, A167fs, A259fs, A284fs
Other names
-
Canonical SPDI
NC_000001.11:45332239:CCCC:CCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA059378
dbSNP: rs761468459
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 17, 2019 RCV000499908.5
Pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 15, 2020 RCV000777643.3
Pathogenic 1 criteria provided, single submitter Aug 1, 2020 RCV001310852.2
Pathogenic 1 no assertion criteria provided - RCV001353713.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MUTYH - - GRCh38
GRCh37
1646 1751

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 06, 2018)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967776.1
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The p.Ala287ProfsX32 variant in MUTYH has been reported in the heterozygous stat e in one individuals with familial adenomatouspolyposis (Aretz 20016). It has al so … (more)
Pathogenic
(Apr 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000913514.2
Submitted: (May 19, 2020)
Comment:
This variant deletes 1 nucleotide in exon 10 of the MUTYH gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
Evidence details
Pathogenic
(Sep 18, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001179223.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The c.859delG variant, located in coding exon 10 of the MUTYH gene, results from a deletion of one nucleotide at nucleotide position 859, causing a … (more)
Pathogenic
(Aug 17, 2019)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV001399526.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Ala287Profs*32) in the MUTYH gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Aug 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500820.3
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Carcinoma of colon
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592699.2
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The MUTYH p.Ala287ProfsX32 variant was identified in 1 of 658 proband chromosomes (frequency: 0.002) from individuals or families with MUTYH associated polyposis, and was not … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
MUTYH-associated polyposis (MAP). Nielsen M Critical reviews in oncology/hematology 2011 PMID: 20663686
Characterization of mutant MUTYH proteins associated with familial colorectal cancer. Ali M Gastroenterology 2008 PMID: 18534194
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Aretz S International journal of cancer 2006 PMID: 16557584

Text-mined citations for rs761468459...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 07, 2021