ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.375T>G (p.Ser125=) (rs201507202)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000520773 SCV000616464 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.375T>G (p.Ser125=) variant in the BRAF gene is 0.054% (9/8644) of East Asian 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 RCV000037948 SCV000207747 benign not specified 2014-10-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000387497 SCV000466995 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271911 SCV000466996 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329291 SCV000466997 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586881 SCV000698340 benign not provided 2016-06-06 criteria provided, single submitter clinical testing Variant summary: The BRAF c.375T>G (p.Ser125Ser) 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. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. This variant was found in 15/121392 control chromosomes at a frequency of 0.0001236, which is approximately 49 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 classified this variant as benign. Taken together, based on the prevalence in the general population, the variant was classified as Benign.
Invitae RCV000520773 SCV000659078 benign Rasopathy 2017-06-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037948 SCV000061613 likely benign not specified 2012-11-30 criteria provided, single submitter clinical testing Ser125Ser in Exon 03 of BRAF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in approximately 0.1% (2/ 2178) of chromosomes from a broad mixed population by the 1000 Genomes Project ( http://1000genomes.org/; dbSNP rs201507202).

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