ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) (rs121913357)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033306 SCV000057211 pathogenic not provided 2012-12-17 criteria provided, single submitter clinical testing The G469R missense mutation has not been reported as a germline mutation to our knowlege; however, a different mutation at this residue (G469E) has been described in patients with Cardio-Facio-Cutaneous (CFC) Syndrome (Niihori et al., 2006). The G469R mutation identified in the fetus has been reported previously as a somatic mutation in association with haematopoietic and lymphoid cancer (Catalogue of Somatic Mutations in Cancer). The G469R missense change is a non-conservative substitution with a neutral, non-polar Gly residue being replaced by a positively-charged Arg residue. The NHLBI ESP Exome Variant Server reports that G469R was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. The variant is found in NOONAN panel(s).
OMIM RCV000015004 SCV000035260 pathogenic Non-Hodgkin lymphoma 2003-11-17 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428425 SCV000505596 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439076 SCV000505597 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421772 SCV000505598 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428973 SCV000505599 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439657 SCV000505600 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422506 SCV000505601 likely pathogenic Squamous cell carcinoma of the skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433203 SCV000505602 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441999 SCV000505603 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423124 SCV000505604 likely pathogenic Cutaneous melanoma 2015-07-14 no assertion criteria provided literature only

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