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NM_000821.7(GGCX):c.1242C>T (p.Thr414=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 16, 2021)
Last evaluated:
Jul 5, 2018
Accession:
VCV000337265.4
Variation ID:
337265
Description:
single nucleotide variant
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NM_000821.7(GGCX):c.1242C>T (p.Thr414=)

Allele ID
290847
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p11.2
Genomic location
2: 85552984 (GRCh38) GRCh38 UCSC
2: 85780107 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_592:g.13551C>T
NC_000002.11:g.85780107G>A
NC_000002.12:g.85552984G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:85552983:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.11901 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.11765
Trans-Omics for Precision Medicine (TOPMed) 0.11050
The Genome Aggregation Database (gnomAD), exomes 0.11424
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.11664
The Genome Aggregation Database (gnomAD) 0.10212
1000 Genomes Project 0.11901
Links
ClinGen: CA1741879
dbSNP: rs10179904
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 Jan 13, 2018 RCV000370078.2
Benign 1 criteria provided, single submitter Jul 5, 2018 RCV001672585.2
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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
(Jan 13, 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: SCV000432276.3
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: SCV001885773.1
Submitted: (Sep 16, 2021)
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 rs10179904...

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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 Sep 23, 2021