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NM_001048174.2(MUTYH):c.305-1G>C AND Carcinoma of colon

Germline classification:
Pathogenic (1 submission)
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:
RCV001353991.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.305-1G>C]

NM_001048174.2(MUTYH):c.305-1G>C

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.305-1G>C
HGVS:
  • NC_000001.11:g.45333171C>G
  • NG_008189.1:g.12300G>C
  • NM_001048171.2:c.305-1G>C
  • NM_001048172.2:c.308-1G>C
  • NM_001048173.2:c.305-1G>C
  • NM_001048174.2:c.305-1G>CMANE SELECT
  • NM_001128425.2:c.389-1G>C
  • NM_001293190.2:c.350-1G>C
  • NM_001293191.2:c.338-1G>C
  • NM_001293192.2:c.29-1G>C
  • NM_001293195.2:c.305-1G>C
  • NM_001293196.2:c.29-1G>C
  • NM_001350650.2:c.33+114G>C
  • NM_001350651.2:c.33+114G>C
  • NM_001407069.1:c.380-1G>C
  • NM_001407070.1:c.305-1G>C
  • NM_001407071.1:c.308-1G>C
  • NM_001407072.1:c.305-1G>C
  • NM_001407073.1:c.347-1G>C
  • NM_001407075.1:c.221-1G>C
  • NM_001407077.1:c.338-1G>C
  • NM_001407078.1:c.308-1G>C
  • NM_001407079.1:c.308-1G>C
  • NM_001407080.1:c.305-1G>C
  • NM_001407081.1:c.305-1G>C
  • NM_001407082.1:c.33+114G>C
  • NM_001407083.1:c.347-1G>C
  • NM_001407085.1:c.347-1G>C
  • NM_001407086.1:c.308-1G>C
  • NM_001407087.1:c.326-1G>C
  • NM_001407088.1:c.305-1G>C
  • NM_001407089.1:c.305-1G>C
  • NM_001407091.1:c.29-1G>C
  • NM_012222.3:c.380-1G>C
  • LRG_220t1:c.389-1G>C
  • LRG_220:g.12300G>C
  • NC_000001.10:g.45798843C>G
  • NM_001048171.1:c.347-1G>C
  • NM_001128425.1:c.389-1G>C
Links:
dbSNP: rs372267274
NCBI 1000 Genomes Browser:
rs372267274
Molecular consequence:
  • NM_001350650.2:c.33+114G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350651.2:c.33+114G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407082.1:c.33+114G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048171.2:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001048172.2:c.308-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001048173.2:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001048174.2:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001128425.2:c.389-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293190.2:c.350-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293191.2:c.338-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293192.2:c.29-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293195.2:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293196.2:c.29-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407069.1:c.380-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407070.1:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407071.1:c.308-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407072.1:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407073.1:c.347-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407075.1:c.221-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407077.1:c.338-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407078.1:c.308-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407079.1:c.308-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407080.1:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407081.1:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407083.1:c.347-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407085.1:c.347-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407086.1:c.308-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407087.1:c.326-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407088.1:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407089.1:c.305-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407091.1:c.29-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_012222.3:c.380-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Carcinoma of colon (CRC)
Synonyms:
Colonic carcinoma; Colon carcinoma
Identifiers:
MONDO: MONDO:0002032; MedGen: C0699790

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000592682Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes0not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592682.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided0not providednot providedclinical testingnot provided

Description

The c.389-1G>C variant was identified in 3 of 152 proband chromosomes (frequency: 0.020) from Portuguese and Brazilian individuals or families with MAP/AFAP/FAP (Isidro 2004, Torrezan 2013); however, control chromosomes were not evaluated in these studies. The c.389-1G>C variant was not identified in dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), Exome Aggregation Consortium (ExAC), database MutDB, “Zhejiang Colon Cancer Database”, the ClinVar database, GeneInsight VariantWire database, and COSMIC. The variant was identified in UMD (12x as a Causal variant), with co-occurring pathogenic MUTYH variants (including: c.494A>G and c.1145G>A). The c.389-1G>C variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant region of the splice consensus sequence and this variant is the type of which could be expected to cause the disorder. In addition, 5 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. In summary, based on the above information, this variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided0not providednot providednot provided

Last Updated: Jan 19, 2025