1-91978246-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_207189.4(BRDT):āc.1048A>Gā(p.Lys350Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000473 in 1,614,034 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 (ā ).
Frequency
Consequence
NM_207189.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152226Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251392Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135868
GnomAD4 exome AF: 0.000502 AC: 734AN: 1461808Hom.: 0 Cov.: 30 AF XY: 0.000505 AC XY: 367AN XY: 727212
GnomAD4 genome AF: 0.000197 AC: 30AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1060A>G (p.K354E) alteration is located in exon 7 (coding exon 6) of the BRDT gene. This alteration results from a A to G substitution at nucleotide position 1060, causing the lysine (K) at amino acid position 354 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at