rs11266586
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_153252.5(BRWD3):c.*6331C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000244 in 110,734 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 10 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_153252.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BRWD3 | NM_153252.5 | c.*6331C>T | 3_prime_UTR_variant | Exon 41 of 41 | ENST00000373275.5 | NP_694984.5 | ||
BRWD3 | XM_005262113.4 | c.*6331C>T | 3_prime_UTR_variant | Exon 40 of 40 | XP_005262170.1 | |||
BRWD3 | XM_017029384.2 | c.*6331C>T | 3_prime_UTR_variant | Exon 30 of 30 | XP_016884873.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000244 AC: 27AN: 110681Hom.: 0 Cov.: 21 AF XY: 0.000273 AC XY: 9AN XY: 32929
GnomAD4 genome AF: 0.000244 AC: 27AN: 110734Hom.: 0 Cov.: 21 AF XY: 0.000303 AC XY: 10AN XY: 32992
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at