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NM_001009944.3(PKD1):c.10441del (p.Val3481fs) AND Polycystic kidney disease, adult type

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 21, 2020
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:
RCV001174548.1

Allele description [Variation Report for NM_001009944.3(PKD1):c.10441del (p.Val3481fs)]

NM_001009944.3(PKD1):c.10441del (p.Val3481fs)

Gene:
PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001009944.3(PKD1):c.10441del (p.Val3481fs)
HGVS:
  • NC_000016.10:g.2097210del
  • NG_008617.1:g.46015del
  • NM_000296.4:c.10438del
  • NM_001009944.3:c.10441delMANE SELECT
  • NP_000287.4:p.Val3480fs
  • NP_001009944.3:p.Val3481fs
  • NC_000016.9:g.2147211del
  • NM_001009944.2:c.10441del
  • NM_001009944.2:c.10441delG
Protein change:
V3480fs
Links:
dbSNP: rs2091884240
NCBI 1000 Genomes Browser:
rs2091884240
Molecular consequence:
  • NM_000296.4:c.10438del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001009944.3:c.10441del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Name:
Polycystic kidney disease, adult type (PKD1)
Synonyms:
Polycystic Kidney, Autosomal Dominant; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; Polycystic kidney disease 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008263; MedGen: C3149841; OMIM: 173900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001337697(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada)
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 21, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes52not providednot providedyesclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From (GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada), SCV001337697.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providedyesclinical testing PubMed (1)

Description

This variant has been identified in affected patients of two unrelated families.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided5not provided2not provided

Last Updated: Aug 5, 2023