ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs)

dbSNP: rs1566782962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067571 SCV001232639 pathogenic Fanconi anemia 2023-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 861125). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 31991861). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Lys1683Argfs*3) in the FANCM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111).
GeneDx RCV003229016 SCV003926132 likely pathogenic not provided 2023-05-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in individual(s) with breast cancer (Figlioli et al., 2020); This variant is associated with the following publications: (PMID: 27535533, 29895858, 30075111, 31991861)

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