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NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 16, 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:
RCV003477769.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)]

NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)
HGVS:
  • NC_000001.11:g.45331187T>A
  • NG_008189.1:g.14284A>T
  • NM_001048171.2:c.1387A>T
  • NM_001048172.2:c.1390A>T
  • NM_001048173.2:c.1387A>T
  • NM_001048174.2:c.1387A>TMANE SELECT
  • NM_001128425.2:c.1471A>T
  • NM_001293190.2:c.1432A>T
  • NM_001293191.2:c.1420A>T
  • NM_001293192.2:c.1111A>T
  • NM_001293195.2:c.1387A>T
  • NM_001293196.2:c.1111A>T
  • NM_001350650.2:c.1042A>T
  • NM_001350651.2:c.1042A>T
  • NM_012222.3:c.1462A>T
  • NP_001041636.2:p.Lys463Ter
  • NP_001041637.1:p.Lys464Ter
  • NP_001041638.1:p.Lys463Ter
  • NP_001041639.1:p.Lys463Ter
  • NP_001121897.1:p.Lys491Ter
  • NP_001121897.1:p.Lys491Ter
  • NP_001280119.1:p.Lys478Ter
  • NP_001280120.1:p.Lys474Ter
  • NP_001280121.1:p.Lys371Ter
  • NP_001280124.1:p.Lys463Ter
  • NP_001280125.1:p.Lys371Ter
  • NP_001337579.1:p.Lys348Ter
  • NP_001337580.1:p.Lys348Ter
  • NP_036354.1:p.Lys488Ter
  • LRG_220t1:c.1471A>T
  • LRG_220:g.14284A>T
  • LRG_220p1:p.Lys491Ter
  • NC_000001.10:g.45796859T>A
  • NM_001128425.1:c.1471A>T
  • NR_146882.2:n.1615A>T
  • NR_146883.2:n.1464A>T
Protein change:
K348*
Links:
dbSNP: rs876660774
NCBI 1000 Genomes Browser:
rs876660774
Molecular consequence:
  • NR_146882.2:n.1615A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1464A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.2:c.1387A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048172.2:c.1390A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048173.2:c.1387A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048174.2:c.1387A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001128425.2:c.1471A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293190.2:c.1432A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293191.2:c.1420A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293192.2:c.1111A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293195.2:c.1387A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293196.2:c.1111A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350650.2:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350651.2:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012222.3:c.1462A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004222077Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely pathogenic
(Sep 16, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS.

Am J Hum Genet. 2018 Jun 7;102(6):1078-1089. doi: 10.1016/j.ajhg.2018.04.004. Epub 2018 May 10.

PubMed [citation]
PMID:
29754767
PMCID:
PMC5992121

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, SCV004222077.1

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

Description

This variant is predicted to cause the premature termination of MUTYH protein synthesis. This variant has not been reported in individuals with MUTYH related conditions. However, this variant has been reported in a carrier screening study (PMID: 29754767 (2018)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.

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

Last Updated: May 1, 2024