Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000668549 | SCV000793170 | likely benign | Fanconi anemia complementation group C | 2017-07-31 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001358537 | SCV001554299 | likely benign | not provided | no assertion criteria provided | clinical testing | The FANCC p.Phe487Serfs*61 variant was not identified in the literature nor was it identified in the Cosmic or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs542091036) and ClinVar (reported likely benign by Counsyl for Fanconi anemia, complementation group C). The variant was identified in control databases in 2 of 135460 chromosomes at a frequency of 0.000015 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following population: Latino in 2 of 24526 chromosomes (freq: 0.000082), while the variant was not observed in the African, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), Other, and South Asian populations. The c.1458delC variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 487 and leads to a premature stop codon 61 amino acids downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. However, on the NM_000136.2 transcript this variant in 246 basepairs into the intron and therefore is not predicted to have an effect on the protein. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. |