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NM_019616.4(F7):c.1104C>T (p.Ala368=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Sep 1, 2018
Accession:
VCV000716178.9
Variation ID:
716178
Description:
single nucleotide variant
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NM_019616.4(F7):c.1104C>T (p.Ala368=)

Allele ID
725396
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q34
Genomic location
13: 113118777 (GRCh38) GRCh38 UCSC
13: 113773091 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_548:g.979C>T
LRG_554:g.17987C>T
LRG_554t1:c.1170C>T LRG_554p1:p.Ala390=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:113118776:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00070
Trans-Omics for Precision Medicine (TOPMed) 0.00237
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00238
The Genome Aggregation Database (gnomAD), exomes 0.00055
1000 Genomes Project 0.00200
The Genome Aggregation Database (gnomAD) 0.00217
Links
dbSNP: rs6044
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 1, 2018 RCV000888775.3
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV001111145.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Benign
(Mar 30, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001032428.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Factor VII deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001268661.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Sep 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001149104.7
Submitted: (Jul 04, 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 rs6044...

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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 07, 2021