G7D (p.Gly7Asp) variant of RET (P07949)
G7D (p.Gly7Asp) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma; Hirschsprung disease, susceptibility to, 1; Multiple endocrine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- rs1366681125
- ClinGen CA376768033
- ClinVar RCV000567089
- ClinVar RCV000688487
- Conflicting interpretations
- Pheochromocytoma; Hirschsprung disease, susceptibility to, 1; Multiple endocrine
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.33
- MetaLR 0.91
- MetaSVM 0.81
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma; Hirschsprung disease, susceptibility to, 1; Mu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Medullary thyroid cancer: management guidelines of the American Thyroid Association. (PMID 19469690)