NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Likely pathogenic(1) (Last evaluated: Sep 15, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000756490.6

Allele description [Variation Report for NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)]

NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)

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.971G>T (p.Arg324Leu)
HGVS:
  • NC_000016.10:g.2118021C>A
  • NG_008617.1:g.22878G>T
  • NM_000296.4:c.971G>T
  • NM_001009944.3:c.971G>TMANE SELECT
  • NP_000287.4:p.Arg324Leu
  • NP_001009944.3:p.Arg324Leu
  • NC_000016.9:g.2168022C>A
  • NM_000296.3:c.971G>T
  • NM_001009944.2:c.971G>T
  • P98161:p.Arg324Leu
Protein change:
R324L; ARG324LEU
Links:
UniProtKB: P98161#VAR_010085; OMIM: 601313.0011; dbSNP: rs199476099
NCBI 1000 Genomes Browser:
rs199476099
Molecular consequence:
  • NM_000296.4:c.971G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001009944.3:c.971G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001150735CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Jun 1, 2016)
germlineclinical testing

Citation Link,

SCV001791088GeneDxcriteria provided, single submitter
Likely benign
(Sep 15, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001150735.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001791088.1

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

Description

This variant is associated with the following publications: (PMID: 10364515, 12662927, 27499327, 19759016, 21115670, 17582161)

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

Last Updated: Nov 27, 2021

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