chr19-1986871-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017797.4(BTBD2):c.1375G>A(p.Val459Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,312 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BTBD2 | ENST00000255608.9 | c.1375G>A | p.Val459Met | missense_variant | Exon 8 of 9 | 1 | NM_017797.4 | ENSP00000255608.3 | ||
BTBD2 | ENST00000589685.2 | n.1169G>A | non_coding_transcript_exon_variant | Exon 5 of 6 | 1 | |||||
BTBD2 | ENST00000592895.5 | n.1510G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 | |||||
BTBD2 | ENST00000592082.5 | c.*93G>A | downstream_gene_variant | 5 | ENSP00000481163.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460312Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 726438
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1375G>A (p.V459M) 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 1375, causing the valine (V) at amino acid position 459 to be replaced by a methionine (M). 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
Publications
No publications associated with this variant yet.