10-122286171-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_144587.5(BTBD16):c.308C>T(p.Thr103Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000384 in 1,613,974 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144587.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 34AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000199 AC: 50AN: 251440Hom.: 0 AF XY: 0.000199 AC XY: 27AN XY: 135888
GnomAD4 exome AF: 0.000401 AC: 586AN: 1461720Hom.: 0 Cov.: 30 AF XY: 0.000395 AC XY: 287AN XY: 727154
GnomAD4 genome AF: 0.000223 AC: 34AN: 152254Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74420
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.308C>T (p.T103I) alteration is located in exon 5 (coding exon 4) of the BTBD16 gene. This alteration results from a C to T substitution at nucleotide position 308, causing the threonine (T) at amino acid position 103 to be replaced by an isoleucine (I). 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