NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs) AND MYH-associated polyposis

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 19, 2017
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:: RCV000196379.4

Allele description

NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs)

Gene:

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs)

HGVS:

NC_000001.11:g.45331700delG
NG_008189.1:g.13771delC
NM_001128425.1:c.1147delC
NP_001121897.1:p.Ala385Profs
LRG_220t1:c.1147delC
LRG_220:g.13771delC
LRG_220p1:p.Ala385Profs
NC_000001.10:g.45797372delG
p.L383LFS*25

Links:

dbSNP: rs587778536

NCBI 1000 Genomes Browser:

rs587778536

Allele Frequency:

0.00008(-)

Molecular consequence:

NM_001128425.1:c.1147delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: MYH-associated polyposis (FAP2)
Synonyms:: COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; FAP type 2
Identifiers:: MedGen: C1837991; Orphanet: 220460; OMIM: 608456
Age of onset:: Adult

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000253862	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 19, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000253862

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 19, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Invitae, SCV000253862.4

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

Description

This sequence change deletes one nucleotide in exon 12 of the MUTYH mRNA (c.1147delC), causing a frameshift at codon 385. This creates a premature translational stop signal (p.Ala385Profs*23) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with multiple colorectal adenomas (PMID: 12606733, 23108399, 19732775, 23561487). This variant is also known as c.1103delC and c.1145delC in the literature. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Aug 19, 2017

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