ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.997-9C>G

dbSNP: rs774886992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567227 SCV001790875 likely benign not provided 2018-11-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356794 SCV001552059 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The FANCC c.997-9C>G variant was not identified in the literature nor was it identified in the ClinVar, Cosmic, or LOVD 3.0 databases. The variant was identified in dbSNP database (ID: rs774886992). The variant was also identified in control databases in 1 of 244528 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European population in 1 of 111034 chromosomes (freq: 0.000009), but not in the African, Ashkenazi Jewish, East Asian, Finnish, Latino, Other, or South Asian populations. The c.997-9C>G variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. However, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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