U.S. flag

An official website of the United States government

NM_001048174.2(MUTYH):c.274del (p.Glu92fs) AND Familial adenomatous polyposis 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 20, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000778982.13

Allele description [Variation Report for NM_001048174.2(MUTYH):c.274del (p.Glu92fs)]

NM_001048174.2(MUTYH):c.274del (p.Glu92fs)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.274del (p.Glu92fs)
HGVS:
  • NC_000001.11:g.45333315del
  • NG_008189.1:g.12156del
  • NM_001048171.2:c.274del
  • NM_001048172.2:c.277del
  • NM_001048173.2:c.274del
  • NM_001048174.2:c.274delMANE SELECT
  • NM_001128425.2:c.358del
  • NM_001293190.2:c.319del
  • NM_001293191.2:c.307del
  • NM_001293192.2:c.-3del
  • NM_001293195.2:c.274del
  • NM_001293196.2:c.-3del
  • NM_001350650.2:c.3del
  • NM_001350651.2:c.3del
  • NM_012222.3:c.349del
  • NP_001041636.2:p.Glu92fs
  • NP_001041637.1:p.Glu93fs
  • NP_001041638.1:p.Glu92fs
  • NP_001041639.1:p.Glu92fs
  • NP_001121897.1:p.Glu120fs
  • NP_001280119.1:p.Glu107fs
  • NP_001280120.1:p.Glu103fs
  • NP_001280124.1:p.Glu92fs
  • NP_001337579.1:p.Met1fs
  • NP_001337580.1:p.Met1fs
  • NP_036354.1:p.Glu117fs
  • LRG_220:g.12156del
  • NC_000001.10:g.45798987del
  • NC_000001.10:g.45798987delC
  • NM_001128425.1:c.358delG
  • NR_146882.2:n.502del
  • NR_146883.2:n.425del
  • p.E120RFS*26
Protein change:
E103fs
Links:
dbSNP: rs786203213
NCBI 1000 Genomes Browser:
rs786203213
Molecular consequence:
  • NM_001293192.2:c.-3del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293196.2:c.-3del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001048171.2:c.274del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048172.2:c.277del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048173.2:c.274del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048174.2:c.274del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.2:c.358del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293190.2:c.319del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293191.2:c.307del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293195.2:c.274del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.2:c.3del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350651.2:c.3del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012222.3:c.349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.2:c.3del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001350651.2:c.3del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NR_146882.2:n.502del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.425del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000955048Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Oct 20, 2023)
germlineclinical testing

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

SCV004199411Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Dec 26, 2022)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

Ali M, Kim H, Cleary S, Cupples C, Gallinger S, Bristow R.

Gastroenterology. 2008 Aug;135(2):499-507. doi: 10.1053/j.gastro.2008.04.035. Epub 2008 May 7.

PubMed [citation]
PMID:
18534194
PMCID:
PMC2761659

MUTYH-associated polyposis (MAP).

Nielsen M, Morreau H, Vasen HF, Hes FJ.

Crit Rev Oncol Hematol. 2011 Jul;79(1):1-16. doi: 10.1016/j.critrevonc.2010.05.011. Epub 2010 Jul 21. Review.

PubMed [citation]
PMID:
20663686
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000955048.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu120Argfs*26) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 186778). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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

From Baylor Genetics, SCV004199411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025