NM_001048171.1(MUTYH):c.1033C>A (p.Pro345Thr) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Sep 28, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000780503.1

Allele description [Variation Report for NM_001048171.1(MUTYH):c.1033C>A (p.Pro345Thr)]

NM_001048171.1(MUTYH):c.1033C>A (p.Pro345Thr)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048171.1(MUTYH):c.1033C>A (p.Pro345Thr)
HGVS:
  • NC_000001.11:g.45331772G>T
  • NG_008189.1:g.13699C>A
  • NM_001048171.1:c.1033C>A
  • NM_001048172.1:c.994C>A
  • NM_001048173.1:c.991C>A
  • NM_001048174.1:c.991C>A
  • NM_001128425.1:c.1075C>A
  • NM_001293190.1:c.1036C>A
  • NM_001293191.1:c.1024C>A
  • NM_001293192.1:c.715C>A
  • NM_001293195.1:c.991C>A
  • NM_001293196.1:c.715C>A
  • NM_001350650.1:c.646C>A
  • NM_001350651.1:c.646C>A
  • NM_012222.2:c.1066C>A
  • NP_001041636.1:p.Pro345Thr
  • NP_001041637.1:p.Pro332Thr
  • NP_001041638.1:p.Pro331Thr
  • NP_001041639.1:p.Pro331Thr
  • NP_001121897.1:p.Pro359Thr
  • NP_001280119.1:p.Pro346Thr
  • NP_001280120.1:p.Pro342Thr
  • NP_001280121.1:p.Pro239Thr
  • NP_001280124.1:p.Pro331Thr
  • NP_001280125.1:p.Pro239Thr
  • NP_001337579.1:p.Pro216Thr
  • NP_001337580.1:p.Pro216Thr
  • NP_036354.1:p.Pro356Thr
  • LRG_220t1:c.1075C>A
  • LRG_220:g.13699C>A
  • LRG_220p1:p.Pro359Thr
  • NC_000001.10:g.45797444G>T
  • NR_146882.1:n.1249C>A
  • NR_146883.1:n.1063C>A
  • p.P359T
Protein change:
P216T
Links:
dbSNP: rs587782773
NCBI 1000 Genomes Browser:
rs587782773
Molecular consequence:
  • NM_001048171.1:c.1033C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.1:c.994C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.1:c.991C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.1:c.991C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.1075C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.1:c.1036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.1:c.1024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.1:c.715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.1:c.991C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.1:c.715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.1:c.646C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.1:c.646C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.2:c.1066C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.1:n.1249C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.1063C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000917808Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Sep 28, 2018)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, et al.

Mol Genet Genomic Med. 2017 Sep;5(5):553-569. doi: 10.1002/mgg3.317.

PubMed [citation]
PMID:
28944238
PMCID:
PMC5606870

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000917808.1

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

Description

Variant summary: MUTYH c.1075C>A (p.Pro359Thr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.5e-05 in 275480 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1075C>A has been reported in the literature in an individual affected with MUTYH-associated Polyposis (DeRycke_2017). This report does not provide an unequivocal conclusion about association of the variant with MUTYH-associated Polyposis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2021

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