NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 14, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003151379.2

Allele description [Variation Report for NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)]

NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)

Gene:

PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)

HGVS:

NC_000016.10:g.2103772_2103783dup
NG_008617.1:g.39448_39459dup
NM_000296.4:c.8284_8295dup
NM_001009944.3:c.8284_8295dupMANE SELECT
NP_000287.4:p.Ile2762_Arg2765dup
NP_001009944.3:p.Ile2762_Arg2765dup
NC_000016.9:g.2153773_2153784dup
NM_001009944.2:c.8284_8295dup

Links:

dbSNP: rs1596527370

NCBI 1000 Genomes Browser:

rs1596527370

Molecular consequence:

NM_000296.4:c.8284_8295dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001009944.3:c.8284_8295dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003839855	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Likely pathogenic (Oct 14, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003839855

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Likely pathogenic
(Oct 14, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839855.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

DNA sequence analysis of the PKD1 gene demonstrated a twelve base pair duplication in exon 23, c.8284_8295dup. This in-frame duplication is predicted to result in the duplication of four amino acid residues, p.Ile2762_Arg2765dup in the REJ-like egg jelly receptor domain. This duplication has been previously described in individuals with polycystic kidney disease (PMID: 11115377). The c.8284_8295dup sequence change has not been described in population databases such as ExAC and gnomAD. Based on these collective evidences, this sequence change is classified as likely pathogenic, however functional studies have not been performed to prove this conclusively.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 4, 2024

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