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NM_000821.7(GGCX):c.215-1G>T

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Aug 1, 2004
Accession:
VCV000016198.1
Variation ID:
16198
Description:
single nucleotide variant
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NM_000821.7(GGCX):c.215-1G>T

Allele ID
31237
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p11.2
Genomic location
2: 85559076 (GRCh38) GRCh38 UCSC
2: 85786199 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.85786199C>A
NC_000002.12:g.85559076C>A
NM_000821.7:c.215-1G>T MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
IVS2AS, G-T
Canonical SPDI
NC_000002.12:85559075:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA212965
OMIM: 137167.0004
dbSNP: rs786205096
VarSome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 15287948 Fig. 1 to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 1, 2004 RCV000017582.30
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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
Pathogenic
(Aug 01, 2004)
no assertion criteria provided
Method: literature only
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
Allele origin: germline
OMIM
Accession: SCV000037854.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors. Rost S British journal of haematology 2004 PMID: 15287948

Text-mined citations for rs786205096...

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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 Jan 25, 2021