NM_001048174.2(MUTYH):c.914-27G>A AND Familial adenomatous polyposis 2

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 6, 2016
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:: RCV000412157.3

Allele description [Variation Report for NM_001048174.2(MUTYH):c.914-27G>A]

NM_001048174.2(MUTYH):c.914-27G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.914-27G>A

HGVS:

NC_000001.11:g.45331876C>T
NG_008189.1:g.13595G>A
NM_001048171.2:c.914-27G>A
NM_001048172.2:c.917-27G>A
NM_001048173.2:c.914-27G>A
NM_001048174.2:c.914-27G>AMANE SELECT
NM_001128425.2:c.998-27G>A
NM_001293190.2:c.959-27G>A
NM_001293191.2:c.947-27G>A
NM_001293192.2:c.638-27G>A
NM_001293195.2:c.914-27G>A
NM_001293196.2:c.638-27G>A
NM_001350650.2:c.569-27G>A
NM_001350651.2:c.569-27G>A
NM_012222.3:c.989-27G>A
LRG_220t1:c.998-27G>A
LRG_220:g.13595G>A
NC_000001.10:g.45797548C>T
NM_001048171.1:c.956-27G>A
NM_001128425.1:c.998-27G>A

Links:

dbSNP: rs188830619

NCBI 1000 Genomes Browser:

rs188830619

Molecular consequence:

NM_001048171.2:c.914-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001048172.2:c.917-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001048173.2:c.914-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001048174.2:c.914-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001128425.2:c.998-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001293190.2:c.959-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001293191.2:c.947-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001293192.2:c.638-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001293195.2:c.914-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001293196.2:c.638-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350650.2:c.569-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350651.2:c.569-27G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_012222.3:c.989-27G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Familial adenomatous polyposis 2
Synonyms:: COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; MYH-associated polyposis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012041; MedGen: C3272841; Orphanet: 220460; OMIM: 608456

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487354	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely benign (May 6, 2016)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22297469, 17949294, 16557584 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487354

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely benign
(May 6, 2016)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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

Citations

PubMed

MUTYH gene variants and breast cancer in a Dutch case–control study.

Out AA, Wasielewski M, Huijts PE, van Minderhout IJ, Houwing-Duistermaat JJ, Tops CM, Nielsen M, Seynaeve C, Wijnen JT, Breuning MH, van Asperen CJ, Schutte M, Hes FJ, Devilee P.

Breast Cancer Res Treat. 2012 Jul;134(1):219-27. doi: 10.1007/s10549-012-1965-0.

PubMed [citation]

PMID:: 22297469
PMCID:: PMC3397219

Olschwang S, Blanché H, de Moncuit C, Thomas G.

Genet Test. 2007 Fall;11(3):315-20.

PubMed [citation]

PMID:: 17949294

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000487354.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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: Aug 4, 2024

ClinVar

Relating variation to medicine