rs11750814
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 1P and 12B. PP2BP4_StrongBA1
The NM_139199.2(BRD8):c.1469C>T(p.Thr490Met) variant causes a missense change. The variant allele was found at a frequency of 0.169 in 1,613,960 control chromosomes in the GnomAD database, including 24,967 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_139199.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRD8 | NM_139199.2 | c.1469C>T | p.Thr490Met | missense_variant | 12/27 | ENST00000254900.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRD8 | ENST00000254900.10 | c.1469C>T | p.Thr490Met | missense_variant | 12/27 | 1 | NM_139199.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.134 AC: 20362AN: 151960Hom.: 1643 Cov.: 32
GnomAD3 exomes AF: 0.148 AC: 37120AN: 251362Hom.: 3223 AF XY: 0.154 AC XY: 20917AN XY: 135842
GnomAD4 exome AF: 0.172 AC: 252118AN: 1461882Hom.: 23326 Cov.: 33 AF XY: 0.174 AC XY: 126464AN XY: 727244
GnomAD4 genome ? AF: 0.134 AC: 20357AN: 152078Hom.: 1641 Cov.: 32 AF XY: 0.133 AC XY: 9916AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at