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NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 3, 2021
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:
RCV001800753.3

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)]

NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)
HGVS:
  • NC_000001.11:g.45331302del
  • NG_008189.1:g.14169del
  • NM_001048171.2:c.1272del
  • NM_001048172.2:c.1275del
  • NM_001048173.2:c.1272del
  • NM_001048174.2:c.1272delMANE SELECT
  • NM_001128425.2:c.1356del
  • NM_001293190.2:c.1317del
  • NM_001293191.2:c.1305del
  • NM_001293192.2:c.996del
  • NM_001293195.2:c.1272del
  • NM_001293196.2:c.996del
  • NM_001350650.2:c.927del
  • NM_001350651.2:c.927del
  • NM_012222.3:c.1347del
  • NP_001041636.2:p.Tyr425fs
  • NP_001041637.1:p.Tyr426fs
  • NP_001041638.1:p.Tyr425fs
  • NP_001041639.1:p.Tyr425fs
  • NP_001121897.1:p.Tyr453fs
  • NP_001280119.1:p.Tyr440fs
  • NP_001280120.1:p.Tyr436fs
  • NP_001280121.1:p.Tyr333fs
  • NP_001280124.1:p.Tyr425fs
  • NP_001280125.1:p.Tyr333fs
  • NP_001337579.1:p.Tyr310fs
  • NP_001337580.1:p.Tyr310fs
  • NP_036354.1:p.Tyr450fs
  • LRG_220:g.14169del
  • NC_000001.10:g.45796974del
  • NC_000001.11:g.45331302delT
  • NM_001128425.1:c.1356delA
  • NM_001128425.2:c.1356del
  • NR_146882.2:n.1500del
  • NR_146883.2:n.1349del
Protein change:
Y310fs
Links:
dbSNP: rs1553125243
NCBI 1000 Genomes Browser:
rs1553125243
Molecular consequence:
  • NM_001048171.2:c.1272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048172.2:c.1275del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048173.2:c.1272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048174.2:c.1272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.2:c.1356del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293190.2:c.1317del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293191.2:c.1305del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293192.2:c.996del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293195.2:c.1272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293196.2:c.996del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.2:c.927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350651.2:c.927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012222.3:c.1347del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_146882.2:n.1500del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1349del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002011064Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Nov 3, 2021)
germlineclinical testing

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

SCV002046871Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Pathogenic
(Apr 8, 2021)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients.

Croitoru ME, Cleary SP, Berk T, Di Nicola N, Kopolovic I, Bapat B, Gallinger S.

J Surg Oncol. 2007 May 1;95(6):499-506.

PubMed [citation]
PMID:
17219385
See all PubMed Citations (5)

Details of each submission

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002011064.3

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046871.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This frameshift variant causes the premature termination of MUTYH protein synthesis. It has been reported along with another pathogenic MUTYH variant in an individual with familial colorectal cancer in the published literature (PMID: 17219385 (2007)). Therefore, the variant is classified as pathogenic.

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

Last Updated: Jan 13, 2025