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NM_000128.3(F11):c.1839G>A (p.Glu613=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 17, 2021)
Last evaluated:
Jul 10, 2021
Accession:
VCV000255179.6
Variation ID:
255179
Description:
single nucleotide variant
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NM_000128.3(F11):c.1839G>A (p.Glu613=)

Allele ID
251434
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186288575 (GRCh38) GRCh38 UCSC
4: 187209729 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187209729G>A
NC_000004.12:g.186288575G>A
NG_008051.1:g.27612G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:186288574:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.05831 (A)

Allele frequency
1000 Genomes Project 0.05831
The Genome Aggregation Database (gnomAD), exomes 0.05560
Trans-Omics for Precision Medicine (TOPMed) 0.04753
The Genome Aggregation Database (gnomAD) 0.04592
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.04659
Exome Aggregation Consortium (ExAC) 0.05457
Links
ClinGen: CA3164140
dbSNP: rs5976
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jul 10, 2021 RCV000280113.3
Benign 2 criteria provided, multiple submitters, no conflicts May 4, 2021 RCV001514372.3
Benign 1 criteria provided, single submitter - RCV000245099.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F11 - - GRCh38
GRCh37
268 510
F11-AS1 - - - GRCh38 - 173

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001762534.1
Submitted: (Jul 31, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302394.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448997.3
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
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001722200.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 04, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001890472.1
Submitted: (Sep 17, 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 rs5976...

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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