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NM_001040716.2(PC):c.2224-9T>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000138578.4
Variation ID:
138578
Description:
single nucleotide variant
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NM_001040716.2(PC):c.2224-9T>G

Allele ID
142281
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 66850932 (GRCh38) GRCh38 UCSC
11: 66618403 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.66618403A>C
NC_000011.10:g.66850932A>C
NM_001040716.2:c.2224-9T>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:66850931:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.02596 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.04128
1000 Genomes Project 0.02596
Trans-Omics for Precision Medicine (TOPMed) 0.03374
The Genome Aggregation Database (gnomAD) 0.03311
Links
ClinGen: CA292671
dbSNP: rs45560936
Varsome
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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 26, 2020 RCV000284115.5
Benign 1 criteria provided, single submitter May 3, 2012 RCV000127314.2
Benign 1 no assertion criteria provided Feb 19, 2016 RCV000676960.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PC - - GRCh38
GRCh37
545 558

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 03, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000170875.10
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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Pyruvate carboxylase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000373459.3
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 26, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate carboxylase deficiency
Allele origin: germline
Invitae
Accession: SCV000629262.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Feb 19, 2016)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000802786.1
Submitted: (May 23, 2018)
Evidence details

Functional evidence

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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

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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 rs45560936...

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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 Jun 14, 2021