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NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 13, 2019)
Last evaluated:
Oct 26, 2018
Accession:
VCV000635503.1
Variation ID:
635503
Description:
single nucleotide variant
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NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro)

Allele ID
623329
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2103446 (GRCh38) GRCh38 UCSC
16: 2153447 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.2153447C>G
NC_000016.10:g.2103446C>G
NM_001009944.3:c.8611G>C NP_001009944.3:p.Ala2871Pro missense
... more HGVS
Protein change
A2871P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Oct 26, 2018 RCV000786968.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PKD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
894 1075

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 26, 2018)
no assertion criteria provided
Method: clinical testing
Polycystic kidney disease, adult type
Allele origin: germline
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
Accession: SCV000925873.1
Submitted: (Mar 13, 2019)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Dec 15, 2019