Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220897 | SCV000268865 | benign | not specified | 2015-04-30 | criteria provided, single submitter | clinical testing | p.Ala170Thr in exon 4 of CEACAM16: This variant is not expected to have clinical significance because it has been identified in 0.48% (47/9884) South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs200297676), and because of a lack of conservation across species, inc luding mammals. Of note, squirrel, dolphin, killer whale, and armadillo have a t hreonine (Thr) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of imp act to the protein. |
Gene |
RCV000840018 | SCV000981931 | likely benign | not provided | 2021-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000840018 | SCV001024315 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002517451 | SCV003743992 | uncertain significance | Inborn genetic diseases | 2022-06-09 | criteria provided, single submitter | clinical testing | The c.508G>A (p.A170T) alteration is located in exon 4 (coding exon 3) of the CEACAM16 gene. This alteration results from a G to A substitution at nucleotide position 508, causing the alanine (A) at amino acid position 170 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV000840018 | SCV004011073 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | CEACAM16: BP4 |
Prevention |
RCV003927897 | SCV004743304 | likely benign | CEACAM16-related condition | 2023-10-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |