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NM_000128.3(F11):c.801A>G (p.Thr267=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 21, 2021)
Last evaluated:
Jul 10, 2021
Accession:
VCV000255181.5
Variation ID:
255181
Description:
single nucleotide variant
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NM_000128.3(F11):c.801A>G (p.Thr267=)

Allele ID
251430
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186280057 (GRCh38) GRCh38 UCSC
4: 187201211 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_583t1:c.801A>G LRG_583p1:p.Thr267=
NC_000004.11:g.187201211A>G
NC_000004.12:g.186280057A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:186280056:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.16713 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.14612
Exome Aggregation Consortium (ExAC) 0.15127
The Genome Aggregation Database (gnomAD) 0.16325
Trans-Omics for Precision Medicine (TOPMed) 0.15556
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.16631
1000 Genomes Project 0.16713
Links
ClinGen: CA3163784
dbSNP: rs5974
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 RCV000302541.3
Benign 2 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV001512065.2
Benign 1 criteria provided, single submitter - RCV000241628.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302396.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448986.3
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: SCV001719408.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001762528.1
Submitted: (Jul 31, 2021)
Evidence details
Benign
(Nov 11, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001909403.1
Submitted: (Sep 21, 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 rs5974...

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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