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NM_000821.7(GGCX):c.974G>A (p.Arg325Gln)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 30, 2021)
Last evaluated:
Jul 5, 2018
Accession:
VCV000337268.3
Variation ID:
337268
Description:
single nucleotide variant
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NM_000821.7(GGCX):c.974G>A (p.Arg325Gln)

Allele ID
291110
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p11.2
Genomic location
2: 85553413 (GRCh38) GRCh38 UCSC
2: 85780536 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.85780536C>T
NC_000002.12:g.85553413C>T
NG_011811.2:g.13122G>A
... more HGVS
Protein change
R325Q, R268Q
Other names
-
Canonical SPDI
NC_000002.12:85553412:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.37780 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.31026
1000 Genomes Project 0.37780
Trans-Omics for Precision Medicine (TOPMed) 0.41032
Exome Aggregation Consortium (ExAC) 0.31979
The Genome Aggregation Database (gnomAD) 0.40963
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.41919
Links
ClinGen: CA1741955
UniProtKB: P38435#VAR_005780
dbSNP: rs699664
Varsome
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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 Mar 6, 2018 RCV000357323.2
Benign 1 criteria provided, single submitter Jul 5, 2018 RCV001723929.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GGCX - - GRCh38
GRCh37
243 269

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 06, 2018)
criteria provided, single submitter
Method: clinical testing
Vitamin K-dependent clotting factors, combined deficiency of, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000432279.3
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
(Jul 05, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001950764.1
Submitted: (Sep 30, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 24231026, 21704322, 17029979, 30981116, 33507293)

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 rs699664...

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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 Oct 06, 2021