14-105249212-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001387567.1(BTBD6):c.430C>T(p.Pro144Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000882 in 1,587,414 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001387567.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BTBD6 | ENST00000392554.8 | c.430C>T | p.Pro144Ser | missense_variant | Exon 2 of 4 | 1 | NM_001387567.1 | ENSP00000376337.4 | ||
BRF1 | ENST00000547530.7 | c.544+3295G>A | intron_variant | Intron 5 of 17 | 1 | NM_001519.4 | ENSP00000448387.2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152130Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000766 AC: 11AN: 1435284Hom.: 0 Cov.: 44 AF XY: 0.00000701 AC XY: 5AN XY: 713280
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152130Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.271C>T (p.P91S) alteration is located in exon 3 (coding exon 2) of the BTBD6 gene. This alteration results from a C to T substitution at nucleotide position 271, causing the proline (P) at amino acid position 91 to be replaced by a serine (S). 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