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NM_006702.4(PNPLA6):c.1587C>G (p.Pro529=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 2, 2018)
Last evaluated:
Dec 20, 2017
Accession:
VCV000240692.1
Variation ID:
240692
Description:
single nucleotide variant
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NM_006702.4(PNPLA6):c.1587C>G (p.Pro529=)

Allele ID
243564
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7550002 (GRCh38) GRCh38 UCSC
19: 7614888 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7550002C>G
NC_000019.9:g.7614888C>G
NM_006702.4:c.1587C>G NP_006693.3:p.Pro529= synonymous
NG_013374.1:g.20851C>G
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00499 (G)

Allele frequency
1000 Genomes Project 0.00499
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01030
The Genome Aggregation Database (gnomAD) 0.00898
Trans-Omics for Precision Medicine (TOPMed) 0.00891
The Genome Aggregation Database (gnomAD), exomes 0.01043
Links
dbSNP: rs62111288
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 20, 2017 RCV000227760.4
Benign 1 criteria provided, single submitter Oct 10, 2016 RCV000427603.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PNPLA6 - - GRCh38
GRCh37
168 185

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 10, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000528695.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Benign
(Dec 20, 2017)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia 39
Allele origin: germline
Invitae
Accession: SCV000289581.4
Submitted: (Apr 02, 2018)
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 Jun 20, 2019