12-120071625-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001367886.1(BICDL1):c.913C>T(p.His305Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000275 in 1,452,488 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001367886.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BICDL1 | NM_001367886.1 | c.913C>T | p.His305Tyr | missense_variant | Exon 5 of 10 | ENST00000548673.6 | NP_001354815.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000416 AC: 1AN: 240278Hom.: 0 AF XY: 0.00000765 AC XY: 1AN XY: 130644
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1452488Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 722370
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.913C>T (p.H305Y) alteration is located in exon 5 (coding exon 5) of the BICDL1 gene. This alteration results from a C to T substitution at nucleotide position 913, causing the histidine (H) at amino acid position 305 to be replaced by a tyrosine (Y). 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