ClinVar Miner

Submissions for variant NM_001039213.4(CEACAM16):c.508G>A (p.Ala170Thr)

gnomAD frequency: 0.00105  dbSNP: rs200297676
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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.
GeneDx 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.
CeGaT Center for Human Genetics Tuebingen RCV000840018 SCV004011073 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CEACAM16: BP4
PreventionGenetics, part of Exact Sciences 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).

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