NM_001128425.1(MUTYH):c.1249C>T (p.Arg417Cys) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Feb 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000164662.5

Allele description [Variation Report for NM_001128425.1(MUTYH):c.1249C>T (p.Arg417Cys)]

NM_001128425.1(MUTYH):c.1249C>T (p.Arg417Cys)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001128425.1(MUTYH):c.1249C>T (p.Arg417Cys)
HGVS:
  • NC_000001.11:g.45331494G>A
  • NG_008189.1:g.13977C>T
  • NM_001048171.1:c.1207C>T
  • NM_001048172.1:c.1168C>T
  • NM_001048173.1:c.1165C>T
  • NM_001048174.1:c.1165C>T
  • NM_001128425.1:c.1249C>T
  • NM_001293190.1:c.1210C>T
  • NM_001293191.1:c.1198C>T
  • NM_001293192.1:c.889C>T
  • NM_001293195.1:c.1165C>T
  • NM_001293196.1:c.889C>T
  • NM_001350650.1:c.820C>T
  • NM_001350651.1:c.820C>T
  • NM_012222.2:c.1240C>T
  • NP_001041636.1:p.Arg403Cys
  • NP_001041637.1:p.Arg390Cys
  • NP_001041638.1:p.Arg389Cys
  • NP_001041639.1:p.Arg389Cys
  • NP_001121897.1:p.Arg417Cys
  • NP_001280119.1:p.Arg404Cys
  • NP_001280120.1:p.Arg400Cys
  • NP_001280121.1:p.Arg297Cys
  • NP_001280124.1:p.Arg389Cys
  • NP_001280125.1:p.Arg297Cys
  • NP_001337579.1:p.Arg274Cys
  • NP_001337580.1:p.Arg274Cys
  • NP_036354.1:p.Arg414Cys
  • LRG_220t1:c.1249C>T
  • LRG_220:g.13977C>T
  • LRG_220p1:p.Arg417Cys
  • NC_000001.10:g.45797166G>A
  • NR_146882.1:n.1423C>T
  • NR_146883.1:n.1237C>T
  • p.R417C
Protein change:
R274C
Links:
dbSNP: rs773370513
NCBI 1000 Genomes Browser:
rs773370513
Molecular consequence:
  • NM_001048171.1:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.1:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.1:c.1165C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.1:c.1165C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.1249C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.1:c.1210C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.1:c.1198C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.1:c.889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.1:c.1165C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.1:c.889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.1:c.820C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.1:c.820C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.2:c.1240C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.1:n.1423C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.1237C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000215327Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Feb 19, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000215327.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R417C variant (also known as c.1249C>T), located in coding exon 13 of the MUTYH gene, results from a C to T substitution at nucleotide position 1249. The arginine at codon 417 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 26, 2021

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