14-24319765-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001198568.2(ADCY4):c.2710G>A(p.Glu904Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,614,050 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001198568.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADCY4 | NM_001198568.2 | c.2710G>A | p.Glu904Lys | missense_variant | Exon 21 of 25 | ENST00000418030.7 | NP_001185497.1 | |
ADCY4 | NM_001198592.2 | c.2710G>A | p.Glu904Lys | missense_variant | Exon 22 of 26 | NP_001185521.1 | ||
ADCY4 | NM_139247.4 | c.2710G>A | p.Glu904Lys | missense_variant | Exon 22 of 26 | NP_640340.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251438Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135896
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461860Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727234
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2710G>A (p.E904K) alteration is located in exon 21 (coding exon 21) of the ADCY4 gene. This alteration results from a G to A substitution at nucleotide position 2710, causing the glutamic acid (E) at amino acid position 904 to be replaced by a lysine (K). 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