ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2128-15dup (rs373442098)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037942 SCV000226781 benign not specified 2014-09-05 criteria provided, single submitter clinical testing
Invitae RCV000196864 SCV000252786 benign Rasopathy 2019-12-31 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000037942 SCV000257952 benign not specified 2015-06-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269428 SCV000466953 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324595 SCV000466954 uncertain significance Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379190 SCV000466955 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000037942 SCV001361992 benign not specified 2019-10-10 criteria provided, single submitter clinical testing Variant summary: BRAF c.2128-5dupT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 151920 control chromosomes. However, multiple benign variants have been found in this polyT region. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (2x benign, 1x VUS). Based on the evidence outlined above, the variant was classified as benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037942 SCV000061607 not provided not specified 2014-03-13 no assertion provided clinical testing 2128-5_2128-4insT in intron 17 of BRAF: This variant is not expected to have clinical significance because it shifts but does not alter the splice consensus sequence.

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