U.S. flag

An official website of the United States government

NM_001009944.3(PKD1):c.11251_11265dup (p.Gln3751_Gln3755dup) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000413784.1

Allele description [Variation Report for NM_001009944.3(PKD1):c.11251_11265dup (p.Gln3751_Gln3755dup)]

NM_001009944.3(PKD1):c.11251_11265dup (p.Gln3751_Gln3755dup)

Genes:
PKD1-AS1:PKD1 antisense RNA 1 [Gene - HGNC]
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.11251_11265dup (p.Gln3751_Gln3755dup)
HGVS:
  • NC_000016.10:g.2092485_2092499dup
  • NG_008617.1:g.50723_50737dup
  • NM_000296.4:c.11248_11262dup
  • NM_001009944.3:c.11251_11265dupMANE SELECT
  • NP_000287.4:p.Gln3750_Gln3754dup
  • NP_001009944.3:p.Gln3751_Gln3755dup
  • NC_000016.9:g.2142486_2142500dup
  • NM_001009944.2:c.11251_11265dupCAGGTGCGGCTGCAG
Links:
dbSNP: rs1057518104
NCBI 1000 Genomes Browser:
rs1057518104
Molecular consequence:
  • NM_000296.4:c.11248_11262dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001009944.3:c.11251_11265dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491507GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jun 21, 2016) 		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 GeneDx, SCV000491507.1

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

Description

The c.11251_11265dup15 variant in the PKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.11251_11265dup15 variant causes an in-frame duplication of five amino acid residues starting with codon Glutamine 3751, denoted p.Gln3751_Gln3755dup. Splice predictor models indicate this variant creates a cryptic splice donor site that may supplant the natural donor site. However, in the absence of RNA/functional studies, the actual effect on spicing in this individual is unknown. The c.11251_11265dup15 variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.11251_11265dup15 variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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

Last Updated: Apr 23, 2022