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NM_000128.4(F11):c.453C>T (p.Tyr151=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000767985.5
Variation ID:
767985
Description:
single nucleotide variant
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NM_000128.4(F11):c.453C>T (p.Tyr151=)

Allele ID
698456
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186274243 (GRCh38) GRCh38 UCSC
4: 187195397 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_583:g.13280C>T
NC_000004.12:g.186274243C>T
NC_000004.11:g.187195397C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:186274242:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00062
1000 Genomes Project 0.00160
The Genome Aggregation Database (gnomAD) 0.00204
Trans-Omics for Precision Medicine (TOPMed) 0.00234
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00200
Exome Aggregation Consortium (ExAC) 0.00066
Links
dbSNP: rs34807019
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 21, 2020 RCV000946824.3
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001146774.1
Plasma factor XI deficiency
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001273718.1
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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
Likely 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: SCV001307530.1
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
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001092977.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Plasma factor XI deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001457100.1
Submitted: (Dec 28, 2020)
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 rs34807019...

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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 Jun 14, 2021