14-24323367-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001198568.2(ADCY4):āc.2134T>Cā(p.Ser712Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001198568.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADCY4 | NM_001198568.2 | c.2134T>C | p.Ser712Pro | missense_variant | 17/25 | ENST00000418030.7 | |
ADCY4 | NM_001198592.2 | c.2134T>C | p.Ser712Pro | missense_variant | 18/26 | ||
ADCY4 | NM_139247.4 | c.2134T>C | p.Ser712Pro | missense_variant | 18/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCY4 | ENST00000418030.7 | c.2134T>C | p.Ser712Pro | missense_variant | 17/25 | 1 | NM_001198568.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1403398Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 692574
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.