U.S. flag

An official website of the United States government

NM_001048174.2(MUTYH):c.379-1G>C AND Familial adenomatous polyposis 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 15, 2022
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:
RCV000463536.8

Allele description [Variation Report for NM_001048174.2(MUTYH):c.379-1G>C]

NM_001048174.2(MUTYH):c.379-1G>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.379-1G>C
HGVS:
  • NC_000001.11:g.45332960C>G
  • NG_008189.1:g.12511G>C
  • NM_001048171.2:c.379-1G>C
  • NM_001048172.2:c.382-1G>C
  • NM_001048173.2:c.379-1G>C
  • NM_001048174.2:c.379-1G>CMANE SELECT
  • NM_001128425.2:c.463-1G>C
  • NM_001293190.2:c.424-1G>C
  • NM_001293191.2:c.412-1G>C
  • NM_001293192.2:c.103-1G>C
  • NM_001293195.2:c.379-1G>C
  • NM_001293196.2:c.103-1G>C
  • NM_001350650.2:c.34-1G>C
  • NM_001350651.2:c.34-1G>C
  • NM_001407069.1:c.454-126G>C
  • NM_001407070.1:c.379-1G>C
  • NM_001407071.1:c.382-1G>C
  • NM_001407072.1:c.379-1G>C
  • NM_001407073.1:c.421-126G>C
  • NM_001407075.1:c.295-1G>C
  • NM_001407077.1:c.412-1G>C
  • NM_001407078.1:c.382-1G>C
  • NM_001407079.1:c.382-126G>C
  • NM_001407080.1:c.379-126G>C
  • NM_001407081.1:c.379-1G>C
  • NM_001407082.1:c.34-1G>C
  • NM_001407083.1:c.421-1G>C
  • NM_001407085.1:c.421-1G>C
  • NM_001407086.1:c.382-1G>C
  • NM_001407087.1:c.400-1G>C
  • NM_001407088.1:c.379-1G>C
  • NM_001407089.1:c.379-1G>C
  • NM_001407091.1:c.103-1G>C
  • NM_012222.3:c.454-1G>C
  • LRG_220t1:c.463-1G>C
  • LRG_220:g.12511G>C
  • NC_000001.10:g.45798632C>G
  • NM_001128425.1:c.463-1G>C
Links:
dbSNP: rs1057520660
NCBI 1000 Genomes Browser:
rs1057520660
Molecular consequence:
  • NM_001407069.1:c.454-126G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407073.1:c.421-126G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407079.1:c.382-126G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407080.1:c.379-126G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048171.2:c.379-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001048172.2:c.382-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001048173.2:c.379-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001048174.2:c.379-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001128425.2:c.463-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293190.2:c.424-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293191.2:c.412-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293192.2:c.103-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293195.2:c.379-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293196.2:c.103-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001350650.2:c.34-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001350651.2:c.34-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407070.1:c.379-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407071.1:c.382-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407072.1:c.379-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407075.1:c.295-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407077.1:c.412-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407078.1:c.382-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407081.1:c.379-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407082.1:c.34-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407083.1:c.421-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407085.1:c.421-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407086.1:c.382-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407087.1:c.400-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407088.1:c.379-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407089.1:c.379-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407091.1:c.103-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_012222.3:c.454-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000545775Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 15, 2022) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

Aretz S, Uhlhaas S, Goergens H, Siberg K, Vogel M, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W.

Int J Cancer. 2006 Aug 15;119(4):807-14.

PubMed [citation]
PMID:
16557584

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ, Aretz S.

Gastroenterology. 2009 Dec;137(6):1976-85.e1-10. doi: 10.1053/j.gastro.2009.08.052. Epub 2009 Sep 2.

PubMed [citation]
PMID:
19732775
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000545775.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Disruption of this splice site has been observed in individuals with MUTYH-associated polyposis (PMID: 16557584, 19732775; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 5 of the MUTYH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). This variant is also known as c.421-1G>C. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 406853).

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

Last Updated: Sep 29, 2024