ClinVar Miner

Submissions for variant NM_000128.4(F11):c.486-2A>G

dbSNP: rs1057516695
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409802 SCV000486075 likely pathogenic Hereditary factor XI deficiency disease 2016-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000793522 SCV000932878 likely pathogenic not provided 2018-11-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individuals affected with factor XI deficiency (PMID: 12716376, 16835901, 16607084). ClinVar contains an entry for this variant (Variation ID: 370695). This sequence change affects an acceptor splice site in intron 5 of the F11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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