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NM_001048174.2(MUTYH):c.264+10C>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 28, 2023
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:
RCV002339597.5

Allele description [Variation Report for NM_001048174.2(MUTYH):c.264+10C>T]

NM_001048174.2(MUTYH):c.264+10C>T

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.264+10C>T
HGVS:
  • NC_000001.11:g.45333403G>A
  • NG_008189.1:g.12068C>T
  • NM_001048171.2:c.264+10C>T
  • NM_001048172.2:c.267+10C>T
  • NM_001048173.2:c.264+10C>T
  • NM_001048174.2:c.264+10C>TMANE SELECT
  • NM_001128425.2:c.348+10C>T
  • NM_001293190.2:c.309+10C>T
  • NM_001293191.2:c.297+10C>T
  • NM_001293192.2:c.-13+10C>T
  • NM_001293195.2:c.264+10C>T
  • NM_001293196.2:c.-13+10C>T
  • NM_001350650.2:c.-8+10C>T
  • NM_001350651.2:c.-8+10C>T
  • NM_012222.3:c.339+10C>T
  • LRG_220t1:c.348+10C>T
  • LRG_220:g.12068C>T
  • NC_000001.10:g.45799075G>A
  • NC_000001.10:g.45799075G>A
  • NM_001128425.1:c.348+10C>T
Links:
dbSNP: rs369242529
NCBI 1000 Genomes Browser:
rs369242529
Molecular consequence:
  • NM_001048171.2:c.264+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048172.2:c.267+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048173.2:c.264+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048174.2:c.264+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128425.2:c.348+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293190.2:c.309+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293191.2:c.297+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293192.2:c.-13+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293195.2:c.264+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293196.2:c.-13+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350650.2:c.-8+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350651.2:c.-8+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_012222.3:c.339+10C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002618592Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Feb 28, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT.

Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.

PubMed [citation]
PMID:
21520333

Details of each submission

From Ambry Genetics, SCV002618592.3

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

Description

The c.348+10C>T intronic variant results from a C to T substitution 10 nucleotides after coding exon 3 in the MUTYH gene. This variant has been reported in the homozygous state in a proband with attenuated familial adenomatous polyposis (Fokkema IF et al. Hum Mutat, 2011 May;32:557-63). This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: May 1, 2024