NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 12, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489976.2

Allele description [Variation Report for NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)]

NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)

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.9898G>A (p.Gly3300Arg)
HGVS:
  • NC_000016.10:g.2099886C>T
  • NG_008617.1:g.43335G>A
  • NM_000296.4:c.9898G>A
  • NM_001009944.3:c.9898G>AMANE SELECT
  • NP_000287.4:p.Gly3300Arg
  • NP_001009944.3:p.Gly3300Arg
  • NC_000016.9:g.2149887C>T
  • NM_001009944.2:c.9898G>A
  • p.G3300R
Protein change:
G3300R
Links:
dbSNP: rs777024498
NCBI 1000 Genomes Browser:
rs777024498
Molecular consequence:
  • NM_000296.4:c.9898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001009944.3:c.9898G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
no known functional consequence

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000577744GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 12, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000577744.4

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23431072, 31589614)

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

Last Updated: Nov 20, 2021

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