NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000517204.1

Allele description [Variation Report for NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)]

NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)

Gene:
PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)
HGVS:
  • NC_000016.10:g.2103839C>A
  • NG_008617.1:g.39382G>T
  • NM_000296.4:c.8218G>T
  • NM_001009944.3:c.8218G>TMANE SELECT
  • NP_000287.4:p.Gly2740Ter
  • NP_001009944.3:p.Gly2740Ter
  • NC_000016.9:g.2153840C>A
  • NM_000296.3:c.8218G>T
  • p.GLY2740*
Protein change:
G2740*
Links:
dbSNP: rs1555451368
NCBI 1000 Genomes Browser:
rs1555451368
Molecular consequence:
  • NM_000296.4:c.8218G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001009944.3:c.8218G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000614541Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Nov 18, 2016)
germlineclinical testing

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

SCV000809147Gharavi Laboratory,Columbia Universityno assertion criteria provided
Likely pathogenic
(Sep 16, 2018)
germlineresearch

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

Summary from all submissions

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

Citations

PubMed

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Athena Diagnostics Inc, SCV000614541.1

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

From Gharavi Laboratory,Columbia University, SCV000809147.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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