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NM_001048174.2(MUTYH):c.1239+1G>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 19, 2020
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:
RCV002385722.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1239+1G>A]

NM_001048174.2(MUTYH):c.1239+1G>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.1239+1G>A
HGVS:
  • NC_000001.11:g.45331419C>T
  • NG_008189.1:g.14052G>A
  • NM_001048171.2:c.1239+1G>A
  • NM_001048172.2:c.1242+1G>A
  • NM_001048173.2:c.1239+1G>A
  • NM_001048174.2:c.1239+1G>AMANE SELECT
  • NM_001128425.2:c.1323+1G>A
  • NM_001293190.2:c.1284+1G>A
  • NM_001293191.2:c.1272+1G>A
  • NM_001293192.2:c.963+1G>A
  • NM_001293195.2:c.1239+1G>A
  • NM_001293196.2:c.963+1G>A
  • NM_001350650.2:c.894+1G>A
  • NM_001350651.2:c.894+1G>A
  • NM_001407069.1:c.1272+1G>A
  • NM_001407070.1:c.1239+1G>A
  • NM_001407071.1:c.1242+1G>A
  • NM_001407072.1:c.1239+1G>A
  • NM_001407073.1:c.1239+1G>A
  • NM_001407075.1:c.1155+1G>A
  • NM_001407077.1:c.1272+1G>A
  • NM_001407078.1:c.1242+1G>A
  • NM_001407079.1:c.1200+1G>A
  • NM_001407080.1:c.1197+1G>A
  • NM_001407081.1:c.1239+1G>A
  • NM_001407082.1:c.894+1G>A
  • NM_001407083.1:c.1281+1G>A
  • NM_001407085.1:c.1281+1G>A
  • NM_001407086.1:c.1242+1G>A
  • NM_001407087.1:c.1260+1G>A
  • NM_001407088.1:c.1239+1G>A
  • NM_001407089.1:c.1239+1G>A
  • NM_001407091.1:c.963+1G>A
  • NM_012222.3:c.1314+1G>A
  • LRG_220t1:c.1323+1G>A
  • LRG_220:g.14052G>A
  • NC_000001.10:g.45797091C>T
  • NM_001128425.1:c.1323+1G>A
Molecular consequence:
  • NM_001048171.2:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001048172.2:c.1242+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001048173.2:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001048174.2:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001128425.2:c.1323+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001293190.2:c.1284+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001293191.2:c.1272+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001293192.2:c.963+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001293195.2:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001293196.2:c.963+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350650.2:c.894+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350651.2:c.894+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407069.1:c.1272+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407070.1:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407071.1:c.1242+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407072.1:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407073.1:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407075.1:c.1155+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407077.1:c.1272+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407078.1:c.1242+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407079.1:c.1200+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407080.1:c.1197+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407081.1:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407082.1:c.894+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407083.1:c.1281+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407085.1:c.1281+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407086.1:c.1242+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407087.1:c.1260+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407088.1:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407089.1:c.1239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407091.1:c.963+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_012222.3:c.1314+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002690453Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Mar 19, 2020) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Phenotypic Variability of MUTYH-Associated Polyposis in Monozygotic Twins and Endoscopic Resection of A Giant Polyp in Pregnancy.

Casper M, Spier I, Holz R, Aretz S, Lammert F.

Am J Gastroenterol. 2018 Apr;113(4):625-627. doi: 10.1038/ajg.2018.19. No abstract available.

PubMed [citation]
PMID:
29610499

Details of each submission

From Ambry Genetics, SCV002690453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.1323+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 13 of the MUTYH gene. This variant was identified in conjunction with a MUTYH founder mutation (p.Y179C) in a 29 year old female proband and her monozyoptic twin. The proband had approximately 30 colon polyps with the majority being tubulovillous adenomas and her sister had approximately 30 tubular adenomas (Casper M et al. Am. J. Gastroenterol., 2018 04;113:625-627). RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024