chr12-48775065-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015270.5(ADCY6):c.1981-11C>A variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000715 in 1,399,312 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_015270.5 splice_polypyrimidine_tract, intron
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 | UniProt |
---|---|---|---|---|---|---|---|
ADCY6 | NM_015270.5 | c.1981-11C>A | splice_polypyrimidine_tract_variant, intron_variant | ENST00000357869.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCY6 | ENST00000357869.8 | c.1981-11C>A | splice_polypyrimidine_tract_variant, intron_variant | 2 | NM_015270.5 | P1 | |||
ADCY6 | ENST00000307885.4 | c.1981-11C>A | splice_polypyrimidine_tract_variant, intron_variant | 1 | P1 | ||||
ADCY6 | ENST00000550422.5 | c.1981-11C>A | splice_polypyrimidine_tract_variant, intron_variant | 2 | |||||
ADCY6 | ENST00000552090.1 | n.503-11C>A | splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1399312Hom.: 0 Cov.: 32 AF XY: 0.00000145 AC XY: 1AN XY: 690344
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at