Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780968 | SCV000918666 | benign | not specified | 2017-11-27 | criteria provided, single submitter | clinical testing | Variant summary: The BRAF c.951C>A (p.Ser317Ser) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 16/246238 control chromosomes (gnomAD) at a frequency of 0.000065, which is approximately 26 times the estimated maximal expected allele frequency of a pathogenic BRAF variant (0.0000025), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |
Ce |
RCV001815435 | SCV002063159 | likely benign | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067375 | SCV002336904 | likely benign | RASopathy | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965578 | SCV004778334 | likely benign | BRAF-related condition | 2022-03-20 | 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). |