ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.36G>A (p.Ala12=) (rs397507454)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000033265 SCV000616466 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.36G>A (p.Ala12=) variant in the BRAF gene is 0.116% (14/7290) of Latino chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
GeneDx RCV000033265 SCV000057170 poly Rasopathy criteria provided, single submitter clinical testing Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000380281 SCV000467001 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283347 SCV000467002 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340665 SCV000467003 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590400 SCV000698339 benign not provided 2017-07-31 criteria provided, single submitter clinical testing Variant summary: The BRAF c.36G>A (p.Ala12Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 83/134502 control chromosomes in genomAD at a frequency of 0.0006171, which is approximately 247 times the estimated maximal expected allele frequency of a pathogenic BRAF variant (0.0000025), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000033265 SCV000776930 benign Rasopathy 2017-11-28 criteria provided, single submitter clinical testing

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