chr3-48773080-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004157.4(PRKAR2A):c.571G>C(p.Asp191His) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,609,798 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004157.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRKAR2A | NM_004157.4 | c.571G>C | p.Asp191His | missense_variant | Exon 6 of 11 | ENST00000265563.13 | NP_004148.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152038Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249374Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134866
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457760Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725292
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152038Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74256
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.571G>C (p.D191H) alteration is located in exon 6 (coding exon 6) of the PRKAR2A gene. This alteration results from a G to C substitution at nucleotide position 571, causing the aspartic acid (D) at amino acid position 191 to be replaced by a histidine (H). 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