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_001040716.2(PC):c.2592T>C (p.Asn864=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 28, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000719044.5
Variation ID:
719044
Description:
single nucleotide variant
Help

NM_001040716.2(PC):c.2592T>C (p.Asn864=)

Allele ID
724659
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 66850346 (GRCh38) GRCh38 UCSC
11: 66617817 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.66850346A>G
NC_000011.9:g.66617817A>G
NG_008319.1:g.113031T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:66850345:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00062
The Genome Aggregation Database (gnomAD), exomes 0.00049
1000 Genomes Project 0.00120
Links
dbSNP: rs375784582
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 23, 2020 RCV000892109.4
Likely benign 1 criteria provided, single submitter Feb 15, 2019 RCV001712825.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PC - - GRCh38
GRCh37
545 558

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Pyruvate carboxylase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001264756.1
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
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate carboxylase deficiency
Allele origin: germline
Invitae
Accession: SCV001035967.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 15, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001944311.1
Submitted: (Sep 28, 2021)
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 rs375784582...

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 02, 2021