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NM_000297.4(PKD2):c.709+1G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 18, 2012
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:
RCV000078584.4

Allele description

NM_000297.4(PKD2):c.709+1G>A

Gene:
PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_000297.4(PKD2):c.709+1G>A
HGVS:
  • NC_000004.12:g.88019572G>A
  • NG_008604.1:g.16905G>A
  • NM_000297.4:c.709+1G>AMANE SELECT
  • NC_000004.11:g.88940724G>A
  • NM_000297.3:c.709+1G>A
Links:
dbSNP: rs398123308
NCBI 1000 Genomes Browser:
rs398123308
Molecular consequence:
  • NM_000297.4:c.709+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000110440EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
criteria provided, single submitter

(EGL Classification Definitions 2015)		Pathogenic
(Dec 18, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110440.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021