19-1986919-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_017797.4(BTBD2):c.1327G>A(p.Asp443Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000347 in 1,613,204 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017797.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BTBD2 | ENST00000255608.9 | c.1327G>A | p.Asp443Asn | missense_variant | Exon 8 of 9 | 1 | NM_017797.4 | ENSP00000255608.3 | ||
BTBD2 | ENST00000589685.2 | n.1121G>A | non_coding_transcript_exon_variant | Exon 5 of 6 | 1 | |||||
BTBD2 | ENST00000592895.5 | n.1462G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 | |||||
BTBD2 | ENST00000592082.5 | c.*45G>A | downstream_gene_variant | 5 | ENSP00000481163.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250494Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135460
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1460994Hom.: 0 Cov.: 34 AF XY: 0.0000344 AC XY: 25AN XY: 726794
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1327G>A (p.D443N) alteration is located in exon 8 (coding exon 8) of the BTBD2 gene. This alteration results from a G to A substitution at nucleotide position 1327, causing the aspartic acid (D) at amino acid position 443 to be replaced by an asparagine (N). 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