chr14-24318439-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001198568.2(ADCY4):c.3211C>T(p.Pro1071Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,613,996 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADCY4 | NM_001198568.2 | c.3211C>T | p.Pro1071Ser | missense_variant | 25/25 | ENST00000418030.7 | |
ADCY4 | NM_001198592.2 | c.3211C>T | p.Pro1071Ser | missense_variant | 26/26 | ||
ADCY4 | NM_139247.4 | c.3211C>T | p.Pro1071Ser | missense_variant | 26/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCY4 | ENST00000418030.7 | c.3211C>T | p.Pro1071Ser | missense_variant | 25/25 | 1 | NM_001198568.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251242Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135800
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461808Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 727214
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2021 | The c.3211C>T (p.P1071S) alteration is located in exon 25 (coding exon 25) of the ADCY4 gene. This alteration results from a C to T substitution at nucleotide position 3211, causing the proline (P) at amino acid position 1071 to be replaced by a serine (S). 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