Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001709(BDNF):c.196G>A(p.Val66Met) variant causes a missense change. The variant allele was found at a frequency of 0.153 in 152064 control chromosomes in the gnomAD Genomes database, including 2519 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Computational evidence support a benign effect (MetaRNN=0.0017960966).
Variant 11:27658369-C>T is Benign according to our data. Variant chr11-27658369-C-T is described in ClinVar as [Benign]. Clinvar id is 17697. Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
GnomAd highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.458 is higher than 0.05.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Jun 18, 2013
Benign with respect to pulmonary disease based on high population frequency, Th is variant has been proposed to be associated with a rnage of psychiatric manife stations though the data is not solid and more recent meta-analyses argue agains t a risk effect. -