NM_023924.5:c.1664A>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_023924.5(BRD9):āc.1664A>Cā(p.Asn555Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,439,720 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 (ā ).
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 Cov.: 33
GnomAD3 exomes AF: 0.0000611 AC: 15AN: 245614Hom.: 0 AF XY: 0.0000602 AC XY: 8AN XY: 132984
GnomAD4 exome AF: 0.0000118 AC: 17AN: 1439720Hom.: 0 Cov.: 31 AF XY: 0.0000112 AC XY: 8AN XY: 712552
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1664A>C (p.N555T) alteration is located in exon 15 (coding exon 15) of the BRD9 gene. This alteration results from a A to C substitution at nucleotide position 1664, causing the asparagine (N) at amino acid position 555 to be replaced by a threonine (T). 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