rs2289252
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000128.4(F11):c.1481-188C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.371 in 591,776 control chromosomes in the GnomAD database, including 41,802 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.35 ( 9788 hom., cov: 31)
Exomes 𝑓: 0.38 ( 32014 hom. )
Consequence
F11
NM_000128.4 intron
NM_000128.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.23
Genes affected
F11 (HGNC:3529): (coagulation factor XI) This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BP6
?
Variant 4-186286227-C-T is Benign according to our data. Variant chr4-186286227-C-T is described in ClinVar as [Benign]. Clinvar id is 760971.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.399 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
F11 | NM_000128.4 | c.1481-188C>T | intron_variant | ENST00000403665.7 | |||
F11-AS1 | NR_033900.1 | n.1106G>A | non_coding_transcript_exon_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
F11 | ENST00000403665.7 | c.1481-188C>T | intron_variant | 1 | NM_000128.4 | P1 | |||
F11-AS1 | ENST00000505103.5 | n.1045G>A | non_coding_transcript_exon_variant | 4/4 | 1 | ||||
F11 | ENST00000264691.4 | c.176+414C>T | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.354 AC: 53736AN: 151842Hom.: 9777 Cov.: 31
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GnomAD4 exome AF: 0.377 AC: 165709AN: 439816Hom.: 32014 Cov.: 5 AF XY: 0.373 AC XY: 87522AN XY: 234944
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GnomAD4 genome ? AF: 0.354 AC: 53771AN: 151960Hom.: 9788 Cov.: 31 AF XY: 0.352 AC XY: 26105AN XY: 74252
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 10, 2018 | This variant is associated with the following publications: (PMID: 26423325) - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 18, 2023 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at