NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) AND Polycystic kidney disease, adult type

Clinical significance:Benign (Last evaluated: Jan 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000999978.2

Allele description [Variation Report for NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=)]

NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=)

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.5847C>T (p.Ser1949=)
HGVS:
  • NC_000016.10:g.2109320G>A
  • NG_008617.1:g.31579C>T
  • NM_000296.4:c.5847C>T
  • NM_001009944.3:c.5847C>TMANE SELECT
  • NP_000287.4:p.Ser1949=
  • NP_001009944.3:p.Ser1949=
  • NC_000016.9:g.2159321G>A
  • NM_000296.3:c.5847C>T
  • NM_001009944.2:c.5847C>T
  • p.Ser1949Ser
Links:
dbSNP: rs80111665
NCBI 1000 Genomes Browser:
rs80111665
Molecular consequence:
  • NM_000296.4:c.5847C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001009944.3:c.5847C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000604805ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Jan 29, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604805.2

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

Last Updated: Nov 27, 2021

Support Center