rs201004001
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_153252.5(BRWD3):c.*6025delT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000373 in 107,239 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000037 ( 0 hom., 1 hem., cov: 21)
Consequence
BRWD3
NM_153252.5 3_prime_UTR
NM_153252.5 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.846
Genes affected
BRWD3 (HGNC:17342): (bromodomain and WD repeat domain containing 3) The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BRWD3 | NM_153252.5 | c.*6025delT | 3_prime_UTR_variant | Exon 41 of 41 | ENST00000373275.5 | NP_694984.5 | ||
BRWD3 | XM_005262113.4 | c.*6025delT | 3_prime_UTR_variant | Exon 40 of 40 | XP_005262170.1 | |||
BRWD3 | XM_017029384.2 | c.*6025delT | 3_prime_UTR_variant | Exon 30 of 30 | XP_016884873.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000373 AC: 4AN: 107212Hom.: 0 Cov.: 21 AF XY: 0.0000329 AC XY: 1AN XY: 30380
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0000373 AC: 4AN: 107239Hom.: 0 Cov.: 21 AF XY: 0.0000329 AC XY: 1AN XY: 30421
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ClinVar
Not reported inComputational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at