Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000330512.6
Variation ID:
330512
Description:
single nucleotide variant
Help

NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)

Allele ID
350576
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7535971 (GRCh38) GRCh38 UCSC
19: 7600857 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.7600857G>A
NC_000019.10:g.7535971G>A
NG_013374.1:g.6820G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:7535970:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01937 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01823
The Genome Aggregation Database (gnomAD), exomes 0.00849
1000 Genomes Project 0.01937
Trans-Omics for Precision Medicine (TOPMed) 0.02102
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02175
Exome Aggregation Consortium (ExAC) 0.01548
Links
ClinGen: CA9139356
dbSNP: rs35732838
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Nov 21, 2020 RCV000464986.5
Benign 2 criteria provided, multiple submitters, no conflicts Jan 15, 2020 RCV000601995.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000264716.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000324046.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MCOLN1 - - GRCh38
GRCh37
397 417
PNPLA6 - - GRCh38
GRCh37
650 669

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Spastic Paraplegia, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000415632.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Mucolipidosis, Type IV
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483874.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary spastic paraplegia 39
Allele origin: germline
Invitae
Accession: SCV000560981.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 13, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000730043.1
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary spastic paraplegia 39
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001290945.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 15, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475982.1
Submitted: (Dec 30, 2020)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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

Text-mined citations for rs35732838...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2021