chr11-27699390-C-T
Variant names:
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_170734.4(BDNF):c.16G>A(p.Glu6Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.048 in 1,614,100 control chromosomes in the GnomAD database, including 2,172 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.035 ( 130 hom., cov: 31)
Exomes 𝑓: 0.049 ( 2042 hom. )
Consequence
BDNF
NM_170734.4 missense
NM_170734.4 missense
Scores
1
13
Clinical Significance
Conservation
PhyloP100: 0.310
Genes affected
BDNF (HGNC:1033): (brain derived neurotrophic factor) This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.0022384524).
BP6
Variant 11-27699390-C-T is Benign according to our data. Variant chr11-27699390-C-T is described in ClinVar as [Benign]. Clinvar id is 162789.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr11-27699390-C-T is described in Lovd as [Benign].
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0528 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BDNF | NM_001709.5 | c.-22+774G>A | intron_variant | Intron 1 of 1 | ENST00000356660.9 | NP_001700.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0346 AC: 5257AN: 152144Hom.: 130 Cov.: 31
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GnomAD3 exomes AF: 0.0355 AC: 8852AN: 249568Hom.: 200 AF XY: 0.0357 AC XY: 4838AN XY: 135404
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GnomAD4 exome AF: 0.0494 AC: 72199AN: 1461838Hom.: 2042 Cov.: 31 AF XY: 0.0482 AC XY: 35070AN XY: 727220
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GnomAD4 genome AF: 0.0345 AC: 5259AN: 152262Hom.: 130 Cov.: 31 AF XY: 0.0321 AC XY: 2391AN XY: 74452
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207
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200
ESP6500AA
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Feb 21, 2013 | Glu6Lys in exon 1I of BDNF: This variant is not expected to have clinical signif icance because it has been identified in 4.7% (390/8232) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs66866077). - |
not provided Benign:1
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
T
MetaRNN
Benign
T
MetaSVM
Benign
T
PROVEAN
Benign
N
REVEL
Benign
Sift
Pathogenic
D
Sift4G
Benign
T
Polyphen
P
Vest4
ClinPred
T
GERP RS
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at