NM_001387567.1:c.179C>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001387567.1(BTBD6):c.179C>G(p.Ala60Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000486 in 987,970 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.179C>G | p.Ala60Gly | missense_variant | Exon 1 of 4 | 1 | NM_001387567.1 | ENSP00000376337.4 | ||
BRF1 | ENST00000547530.7 | c.544+3617G>C | intron_variant | Intron 5 of 17 | 1 | NM_001519.4 | ENSP00000448387.2 |
Frequencies
GnomAD3 genomes AF: 0.0000685 AC: 10AN: 145962Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000451 AC: 38AN: 842008Hom.: 0 Cov.: 30 AF XY: 0.0000385 AC XY: 15AN XY: 389572
GnomAD4 genome AF: 0.0000685 AC: 10AN: 145962Hom.: 0 Cov.: 32 AF XY: 0.0000563 AC XY: 4AN XY: 70990
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.20C>G (p.A7G) alteration is located in exon 2 (coding exon 1) of the BTBD6 gene. This alteration results from a C to G substitution at nucleotide position 20, causing the alanine (A) at amino acid position 7 to be replaced by a glycine (G). 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