NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu) AND not provided

Clinical significance:Benign (Last evaluated: May 15, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000992724.2

Allele description [Variation Report for NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu)]

NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu)

Gene:
PTPRQ:protein tyrosine phosphatase receptor type Q [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q21.31
Genomic location:
Preferred name:
NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu)
HGVS:
  • NC_000012.12:g.80484531C>G
  • NG_034052.1:g.45186C>G
  • NM_001145026.2:c.1285C>GMANE SELECT
  • NP_001138498.1:p.Gln429Glu
  • NC_000012.11:g.80878310C>G
  • NM_001145026.1:c.1285C>G
Protein change:
Q429E
Links:
dbSNP: rs61729287
NCBI 1000 Genomes Browser:
rs61729287
Molecular consequence:
  • NM_001145026.2:c.1285C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000725734GeneDxcriteria provided, single submitter
Benign
(Jul 19, 2018)
germlineclinical testing

Citation Link,

SCV001145233Athena Diagnostics Inccriteria provided, single submitter
Benign
(May 15, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T.

J Med Genet. 2010 Sep;47(9):643-5. doi: 10.1136/jmg.2009.075697. Epub 2010 May 14.

PubMed [citation]
PMID:
20472657

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 GeneDx, SCV000725734.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 20472657)

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

From Athena Diagnostics Inc, SCV001145233.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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