NM_033656.4:c.2352G>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_033656.4(BRWD1):c.2352G>A(p.Ser784Ser) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000377 in 1,591,584 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033656.4 splice_region, synonymous
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: 0.0000132 AC: 2AN: 151976Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000278 AC: 4AN: 1439608Hom.: 0 Cov.: 30 AF XY: 0.00000140 AC XY: 1AN XY: 715404
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151976Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74208
ClinVar
Submissions by phenotype
Autism Uncertain:1
A de novo mutation in BRWD1 was reported in one patient with autism [PMID: 22495309]. However, there is not sufficient data to confirm the effect of BRWD1 mutations. The c.2352G>A change is located at 3 base pairs downstream of the splice site of exon 21. Although the c.2352G>A change is predicted as a synonymous variant, this change may affect RNA splicing. Likely pathogenicity based on its de novo finding in an 8-year-old male with speech regression, autism spectrum, seizures, macrocephaly, large ears, penile pigmented nevi. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at