ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1309+5G>T

gnomAD frequency: 0.00008  dbSNP: rs370363591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041180 SCV001204781 uncertain significance Fanconi anemia 2022-03-04 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the FANCM gene. It does not directly change the encoded amino acid sequence of the FANCM protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs370363591, gnomAD 0.008%). This variant has been observed in individual(s) with ovarian cancer (PMID: 28881617). ClinVar contains an entry for this variant (Variation ID: 839425). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV003223692 SCV003919364 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Observed in an individual with ovarian cancer and in an unaffected control (Dicks et al., 2017); This variant is associated with the following publications: (PMID: 28881617)

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