14-93242901-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001002860.4(BTBD7):c.2771G>A(p.Arg924Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000483 in 1,613,750 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001002860.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 151860Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251468Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135904
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1461890Hom.: 1 Cov.: 32 AF XY: 0.0000358 AC XY: 26AN XY: 727246
GnomAD4 genome AF: 0.000145 AC: 22AN: 151860Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74152
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2771G>A (p.R924Q) alteration is located in exon 11 (coding exon 10) of the BTBD7 gene. This alteration results from a G to A substitution at nucleotide position 2771, causing the arginine (R) at amino acid position 924 to be replaced by a glutamine (Q). 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