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NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs) AND Familial adenomatous polyposis 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 9, 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:
RCV003334763.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs)]

NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs)
HGVS:
  • NC_000001.11:g.45331291TA[1]
  • NG_008189.1:g.14178AT[1]
  • NM_001048171.2:c.1283_1284del
  • NM_001048172.2:c.1286_1287del
  • NM_001048173.2:c.1283_1284del
  • NM_001048174.2:c.1283_1284delMANE SELECT
  • NM_001128425.2:c.1367_1368del
  • NM_001293190.2:c.1328_1329del
  • NM_001293191.2:c.1316_1317del
  • NM_001293192.2:c.1007_1008del
  • NM_001293195.2:c.1283_1284del
  • NM_001293196.2:c.1007_1008del
  • NM_001350650.2:c.938_939del
  • NM_001350651.2:c.938_939del
  • NM_001407069.1:c.1316_1317del
  • NM_001407070.1:c.1283_1284del
  • NM_001407071.1:c.1286_1287del
  • NM_001407072.1:c.1283_1284del
  • NM_001407073.1:c.1283_1284del
  • NM_001407075.1:c.1199_1200del
  • NM_001407077.1:c.1316_1317del
  • NM_001407078.1:c.1286_1287del
  • NM_001407079.1:c.1244_1245del
  • NM_001407080.1:c.1241_1242del
  • NM_001407081.1:c.1283_1284del
  • NM_001407082.1:c.938_939del
  • NM_001407083.1:c.1325_1326del
  • NM_001407085.1:c.1325_1326del
  • NM_001407086.1:c.1286_1287del
  • NM_001407087.1:c.1304_1305del
  • NM_001407088.1:c.1283_1284del
  • NM_001407089.1:c.1283_1284del
  • NM_001407091.1:c.1007_1008del
  • NM_012222.3:c.1358_1359del
  • NP_001041636.2:p.Tyr428fs
  • NP_001041637.1:p.Tyr429fs
  • NP_001041638.1:p.Tyr428fs
  • NP_001041639.1:p.Tyr428fs
  • NP_001121897.1:p.Tyr456Trpfs
  • NP_001121897.1:p.Tyr456fs
  • NP_001280119.1:p.Tyr443fs
  • NP_001280120.1:p.Tyr439fs
  • NP_001280121.1:p.Tyr336fs
  • NP_001280124.1:p.Tyr428fs
  • NP_001280125.1:p.Tyr336fs
  • NP_001337579.1:p.Tyr313fs
  • NP_001337580.1:p.Tyr313fs
  • NP_001393998.1:p.Tyr439fs
  • NP_001393999.1:p.Tyr428fs
  • NP_001394000.1:p.Tyr429fs
  • NP_001394001.1:p.Tyr428fs
  • NP_001394002.1:p.Tyr428fs
  • NP_001394004.1:p.Tyr400fs
  • NP_001394006.1:p.Tyr439fs
  • NP_001394007.1:p.Tyr429fs
  • NP_001394008.1:p.Tyr415fs
  • NP_001394009.1:p.Tyr414fs
  • NP_001394010.1:p.Tyr428fs
  • NP_001394011.1:p.Tyr313fs
  • NP_001394012.1:p.Tyr442fs
  • NP_001394014.1:p.Tyr442fs
  • NP_001394015.1:p.Tyr429fs
  • NP_001394016.1:p.Tyr435fs
  • NP_001394017.1:p.Tyr428fs
  • NP_001394018.1:p.Tyr428fs
  • NP_001394020.1:p.Tyr336fs
  • NP_036354.1:p.Tyr453fs
  • LRG_220t1:c.1364_1365TA[1]
  • LRG_220:g.14178AT[1]
  • LRG_220p1:p.Tyr456Trpfs
  • NC_000001.10:g.45796963TA[1]
  • NM_001128425.1:c.1364_1365TA[1]
  • NR_146882.2:n.1509AT[1]
  • NR_146883.2:n.1358AT[1]
  • NR_176269.1:n.1505AT[1]
  • NR_176270.1:n.1444_1445TA[1]
  • NR_176271.1:n.1368AT[1]
  • NR_176272.1:n.1432AT[1]
  • NR_176273.1:n.1390AT[1]
  • NR_176274.1:n.1445AT[1]
Protein change:
Y313fs
Molecular consequence:
  • NM_001048171.2:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048172.2:c.1286_1287del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048173.2:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048174.2:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.2:c.1367_1368del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293190.2:c.1328_1329del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293191.2:c.1316_1317del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293192.2:c.1007_1008del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293195.2:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293196.2:c.1007_1008del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.2:c.938_939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350651.2:c.938_939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407069.1:c.1316_1317del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407070.1:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407071.1:c.1286_1287del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407072.1:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407073.1:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407075.1:c.1199_1200del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407077.1:c.1316_1317del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407078.1:c.1286_1287del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407079.1:c.1244_1245del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407080.1:c.1241_1242del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407081.1:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407082.1:c.938_939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407083.1:c.1325_1326del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407085.1:c.1325_1326del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407086.1:c.1286_1287del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407087.1:c.1304_1305del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407088.1:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407089.1:c.1283_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407091.1:c.1007_1008del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012222.3:c.1358_1359del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_146882.2:n.1509AT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1358AT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176269.1:n.1505AT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176271.1:n.1368AT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176272.1:n.1432AT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176273.1:n.1390AT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176274.1:n.1445AT[1] - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004043917Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Jun 9, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004043917.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Oct 28, 2023