NM_023924.5:c.1684C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_023924.5(BRD9):c.1684C>T(p.His562Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000209 in 1,581,384 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152260Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000333 AC: 8AN: 240260Hom.: 0 AF XY: 0.0000384 AC XY: 5AN XY: 130242
GnomAD4 exome AF: 0.0000217 AC: 31AN: 1429124Hom.: 0 Cov.: 31 AF XY: 0.0000113 AC XY: 8AN XY: 706202
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152260Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74392
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1684C>T (p.H562Y) 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 1684, causing the histidine (H) at amino acid position 562 to be replaced by a tyrosine (Y). 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