1-92102555-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001376131.1(BTBD8):c.430C>A(p.Gln144Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000346 in 1,443,672 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001376131.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BTBD8 | NM_001376131.1 | c.430C>A | p.Gln144Lys | missense_variant | 3/18 | ENST00000636805.2 | NP_001363060.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BTBD8 | ENST00000636805.2 | c.430C>A | p.Gln144Lys | missense_variant | 3/18 | 5 | NM_001376131.1 | ENSP00000490161.1 | ||
BTBD8 | ENST00000342818.4 | c.430C>A | p.Gln144Lys | missense_variant | 3/9 | 1 | ENSP00000343686.3 | |||
BTBD8 | ENST00000370382.7 | n.697C>A | non_coding_transcript_exon_variant | 3/6 | 1 | |||||
BTBD8 | ENST00000635934.1 | n.430C>A | non_coding_transcript_exon_variant | 3/17 | 5 | ENSP00000490386.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000413 AC: 1AN: 241922Hom.: 0 AF XY: 0.00000764 AC XY: 1AN XY: 130958
GnomAD4 exome AF: 0.00000346 AC: 5AN: 1443672Hom.: 0 Cov.: 30 AF XY: 0.00000279 AC XY: 2AN XY: 717924
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2023 | The c.430C>A (p.Q144K) alteration is located in exon 3 (coding exon 3) of the BTBD8 gene. This alteration results from a C to A substitution at nucleotide position 430, causing the glutamine (Q) at amino acid position 144 to be replaced by a lysine (K). 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