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NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 16, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000788513.7

Allele description [Variation Report for NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)]

NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)

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.12061C>T (p.Arg4021Ter)
HGVS:
  • NC_000016.10:g.2090751G>A
  • NG_005895.1:g.46446G>A
  • NG_008617.1:g.52470C>T
  • NM_000296.4:c.12058C>T
  • NM_001009944.3:c.12061C>TMANE SELECT
  • NP_000287.4:p.Arg4020Ter
  • NP_001009944.3:p.Arg4021Ter
  • LRG_487:g.46446G>A
  • NC_000016.9:g.2140752G>A
  • NM_001009944.2:c.12061C>T
Protein change:
R4020*
Links:
dbSNP: rs764431330
NCBI 1000 Genomes Browser:
rs764431330
Molecular consequence:
  • NM_000296.4:c.12058C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001009944.3:c.12061C>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
SCV000927660Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Pathogenic
(Apr 27, 2018) 		germlineclinical testing

Citation Link,

SCV001776815GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Aug 16, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000927660.1

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

From GeneDx, SCV001776815.3

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 9044320, 24694054, 25525159, 8911610, 29633482, 22508176, 11115377, 22185115, 19686598, 32939031)

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

Last Updated: Sep 16, 2024