NM_001080512.3:c.6C>A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001080512.3(BICC1):c.6C>A(p.Ala2Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000198 in 1,518,052 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001080512.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151818Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000166 AC: 2AN: 120390Hom.: 0 AF XY: 0.0000147 AC XY: 1AN XY: 67856
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1366234Hom.: 0 Cov.: 30 AF XY: 0.00000148 AC XY: 1AN XY: 674708
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151818Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74142
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at