Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825721 | SCV000967171 | likely benign | not specified | 2018-09-06 | criteria provided, single submitter | clinical testing | The p.His189Tyr variant in CEACAM16 is classified as likely benign because it ha s been identified in 0.09% (11/12816) of East Asian chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org). Computational pre diction tools and conservation analysis suggest that the p.His189Tyr variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4. |
ARUP Laboratories, |
RCV001001617 | SCV001159068 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 4B | 2019-04-18 | criteria provided, single submitter | clinical testing | The p.His189Tyr variant (rs370890913) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is listed in the Exome Aggregation Consortium (ExAC) browser with an allele frequency in East Asian populations of 0.52% (identified in 5 out of 964 chromosomes) and the 1000 Genomes browser with an overall population frequency of greater than 1% in Bengali and Chinese populations. The histidine at codon 189 is moderately conserved considering 19 species (Alamut software v2.7.1), and computational analyses suggest this variant does not have a significant effect on CEACAM16 protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: polymorphism). However, the c.565C>T variant is also predicted to create a strong cryptic splice donor site within the coding region of exon 4 (Alamut software v2.7.1), although the exact impact of this variant on CEACAM16 mRNA processing cannot be precisely determined. Thus, based on the available information, the clinical significance of the c.565C>T; p.His189Tyr variant cannot be determined with certainty. |
Gene |
RCV001544556 | SCV001763711 | likely benign | not provided | 2020-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001544556 | SCV003445941 | likely benign | not provided | 2023-12-22 | criteria provided, single submitter | clinical testing |