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NM_000131.4(F7):c.430+1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 13, 2021)
Last evaluated:
May 6, 2020
Accession:
VCV000627309.4
Variation ID:
627309
Description:
single nucleotide variant
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NM_000131.4(F7):c.430+1G>A

Allele ID
615741
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q34
Genomic location
13: 113113961 (GRCh38) GRCh38 UCSC
13: 113768275 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000131.4:c.430+1G>A splice donor
LRG_554t2:c.364+1G>A
LRG_554:g.13171G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:113113960:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs1056071555
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 6, 2020 RCV000852127.2
Likely pathogenic 1 criteria provided, single submitter Dec 6, 2019 RCV001561212.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F7 - - GRCh38
GRCh37
160 282

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 01, 2019)
criteria provided, single submitter
Method: research
Factor VII deficiency
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899735.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(May 06, 2020)
criteria provided, single submitter
Method: clinical testing
Factor VII deficiency
Allele origin: unknown
Baylor Genetics
Accession: SCV001522607.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Likely pathogenic
(Dec 06, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001783767.1
Submitted: (Aug 13, 2021)
Evidence details
Comment:
Canonical splice site variant predicted to result in an in-frame deletion of a critical region; This variant is associated with the following publications: (PMID: 31273093, … (more)

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
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Downes K Blood 2019 PMID: 31064749

Text-mined citations for rs1056071555...

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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