Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004581947 | SCV005067287 | pathogenic | Familial melanoma | 2022-01-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While the evidence indicates that this variant confers risk of developing CDKN2A (p16INK4a)-associated conditions, its association with risk for developing CDKN2A (p14ARF)-associated conditions is still unclear. This variant is also known as c.194-9983_360del (partial deletion of exon 2) in CDKN2A (p14ARF) transcript. A similar copy number variant has been observed in individual(s) with melanoma (PMID: 17001621, 18023021). It has also been observed to segregate with disease in related individuals. This variant results in the deletion of exon 1 and part of exon 2 (c.-6364_317del) of the CDKN2A (p16INK4a) gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKN2A (p16INK4a) are known to be pathogenic (PMID: 15146471, 16905682). The CDKN2A gene encodes two different proteins, p16INK4a and p14ARF, which are translated from alternative transcripts with different open reading frames. Both transcripts have been analyzed, we report either the variant with the higher classification or default to the CDKN2A (p16INK4a) variant. This report therefore includes the details for the CDKN2A (p16INK4a) variant. |