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NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 4, 2018
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:
RCV000985862.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)]

NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)
HGVS:
  • NC_000001.11:g.45332811_45332820del
  • NG_008189.1:g.12658_12667del
  • NM_001048171.2:c.442_451del
  • NM_001048172.2:c.445_454del
  • NM_001048173.2:c.442_451del
  • NM_001048174.2:c.442_451delMANE SELECT
  • NM_001128425.2:c.526_535del
  • NM_001293190.2:c.487_496del
  • NM_001293191.2:c.475_484del
  • NM_001293192.2:c.166_175del
  • NM_001293195.2:c.442_451del
  • NM_001293196.2:c.166_175del
  • NM_001350650.2:c.97_106del
  • NM_001350651.2:c.97_106del
  • NM_012222.3:c.517_526del
  • NP_001041636.2:p.Gly148fs
  • NP_001041637.1:p.Gly149fs
  • NP_001041638.1:p.Gly148fs
  • NP_001041639.1:p.Gly148fs
  • NP_001121897.1:p.Gly176fs
  • NP_001121897.1:p.Gly176fs
  • NP_001280119.1:p.Gly163fs
  • NP_001280120.1:p.Gly159fs
  • NP_001280121.1:p.Gly56fs
  • NP_001280124.1:p.Gly148fs
  • NP_001280125.1:p.Gly56fs
  • NP_001337579.1:p.Gly33fs
  • NP_001337580.1:p.Gly33fs
  • NP_036354.1:p.Gly173fs
  • LRG_220t1:c.526_535del
  • LRG_220:g.12658_12667del
  • LRG_220p1:p.Gly176fs
  • NC_000001.10:g.45798476_45798485del
  • NC_000001.10:g.45798483_45798492del
  • NM_001128425.1:c.526_535del
  • NM_001128425.1:c.526_535delGGCCTGGGCT
  • NR_146882.2:n.670_679del
  • NR_146883.2:n.519_528del
Protein change:
G148fs
Links:
dbSNP: rs1057517457
NCBI 1000 Genomes Browser:
rs1057517457
Molecular consequence:
  • NM_001048171.2:c.442_451del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048172.2:c.445_454del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048173.2:c.442_451del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048174.2:c.442_451del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.2:c.526_535del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293190.2:c.487_496del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293191.2:c.475_484del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293192.2:c.166_175del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293195.2:c.442_451del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293196.2:c.166_175del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.2:c.97_106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350651.2:c.97_106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012222.3:c.517_526del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_146882.2:n.670_679del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.519_528del - 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
SCV001134480Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Likely pathogenic
(Dec 4, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.

Vysotskaia VS, Hogan GJ, Gould GM, Wang X, Robertson AD, Haas KR, Theilmann MR, Spurka L, Grauman PV, Lai HH, Jeon D, Haliburton G, Leggett M, Chu CS, Iori K, Maguire JR, Ready K, Evans EA, Kang HP, Haque IS.

PeerJ. 2017;5:e3046. doi: 10.7717/peerj.3046.

PubMed [citation]
PMID:
28243543
PMCID:
PMC5326550

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134480.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.

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

Last Updated: Jan 13, 2025