21-39196602-T-C
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PP2BP4_StrongBP6_ModerateBS2
The NM_033656.4(BRWD1):c.6467A>G(p.Lys2156Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0024 in 1,613,474 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_033656.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRWD1 | NM_033656.4 | c.6467A>G | p.Lys2156Arg | missense_variant | 41/41 | ENST00000342449.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRWD1 | ENST00000342449.8 | c.6467A>G | p.Lys2156Arg | missense_variant | 41/41 | 1 | NM_033656.4 | A2 | |
BRWD1 | ENST00000333229.6 | c.6467A>G | p.Lys2156Arg | missense_variant | 41/42 | 1 | P2 | ||
BRWD1 | ENST00000380800.7 | c.6467A>G | p.Lys2156Arg | missense_variant | 41/42 | 1 | A2 | ||
BRWD1 | ENST00000446924.5 | c.*2791A>G | 3_prime_UTR_variant, NMD_transcript_variant | 25/26 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00195 AC: 296AN: 152150Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00164 AC: 410AN: 250542Hom.: 1 AF XY: 0.00171 AC XY: 232AN XY: 135464
GnomAD4 exome AF: 0.00245 AC: 3582AN: 1461206Hom.: 7 Cov.: 33 AF XY: 0.00230 AC XY: 1670AN XY: 726924
GnomAD4 genome ? AF: 0.00194 AC: 296AN: 152268Hom.: 2 Cov.: 32 AF XY: 0.00162 AC XY: 121AN XY: 74466
ClinVar
Submissions by phenotype
BRWD1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 30, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at