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NM_001128425.1(MUTYH):c.348+33_*210delinsTA AND Familial adenomatous polyposis 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 1, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000023394.16

Allele description [Variation Report for NM_001128425.1(MUTYH):c.348+33_*210delinsTA]

NM_001128425.1(MUTYH):c.348+33_*210delinsTA

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
Other names:
c.348+33_*210delinsTA
HGVS:
  • NC_000001.11:g.45329096_45333380delinsTA
  • NG_008189.1:g.12091_16375delinsTA
  • NG_090898.1:g.1_1135delinsTA
  • LRG_220t1:c.348+33_*210delinsTA
  • LRG_220:g.12091_16375delinsTA
  • NC_000001.10:g.45794768_45799052delinsTA
  • NC_000001.11:g.45329096_45333380del4285insTA
  • NM_001128425.1:c.348+33_*210delinsTA
Note:
NCBI staff reviewed the sequence information reported in PubMed 21815886 Fig. 1d to determine the location of this allele on the current reference sequence.
Nucleotide change:
EX3-16DEL
Links:
dbVar: nssv7487149; dbVar: nsv1197538; OMIM: 604933.0009

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044685OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2011)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000246170GeneReviews
no classification provided
not providedgermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome.

Rouleau E, Zattara H, Lefol C, Noguchi T, Briaux A, Buecher B, Bourdon V, Sobol H, Lidereau R, Olschwang S.

Clin Genet. 2011 Sep;80(3):301-3. doi: 10.1111/j.1399-0004.2011.01699.x. No abstract available.

PubMed [citation]
PMID:
21815886

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report.

Torrezan GT, da Silva FC, Krepischi AC, Santos ÉM, Ferreira Fde O, Rossi BM, Carraro DM.

BMC Med Genet. 2011 Sep 30;12:128. doi: 10.1186/1471-2350-12-128.

PubMed [citation]
PMID:
21962078
PMCID:
PMC3203034
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000044685.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the rearrangement of the MUTYH gene resulting in the deletion of exons 3 to 16 that was found in a patient with multiple colorectal adenomas (FAP2; 608456) by Rouleau et al. (2011), see 604933.0002.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000246170.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Common in Spanish, Brazilian, and French populations

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024