NM_023924.5:c.1610C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_023924.5(BRD9):c.1610C>T(p.Ala537Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000299 in 1,607,454 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_023924.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248228Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134424
GnomAD4 exome AF: 0.0000172 AC: 25AN: 1455222Hom.: 0 Cov.: 31 AF XY: 0.00000829 AC XY: 6AN XY: 723620
GnomAD4 genome AF: 0.000151 AC: 23AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1610C>T (p.A537V) alteration is located in exon 15 (coding exon 15) of the BRD9 gene. This alteration results from a C to T substitution at nucleotide position 1610, causing the alanine (A) at amino acid position 537 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at