rs2763
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001164760.2(PRKAR1B):c.*407G>T variant causes a 3 prime UTR 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001164760.2 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
- Marbach-Schaaf neurodevelopmental syndromeInheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae)
- PRKAR1B-related neurodegenerative dementia with intermediate filamentsInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001164760.2. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| PRKAR1B | NM_001164760.2 | MANE Select | c.*407G>T | 3_prime_UTR | Exon 11 of 11 | NP_001158232.1 | |||
| PRKAR1B | NM_001164758.2 | c.*407G>T | 3_prime_UTR | Exon 11 of 11 | NP_001158230.1 | ||||
| PRKAR1B | NM_001164759.1 | c.*407G>T | 3_prime_UTR | Exon 11 of 11 | NP_001158231.1 |
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| PRKAR1B | ENST00000537384.6 | TSL:5 MANE Select | c.*407G>T | 3_prime_UTR | Exon 11 of 11 | ENSP00000440449.1 | |||
| PRKAR1B | ENST00000360274.8 | TSL:1 | c.*407G>T | 3_prime_UTR | Exon 11 of 11 | ENSP00000353415.4 | |||
| PRKAR1B | ENST00000403562.5 | TSL:1 | c.*407G>T | 3_prime_UTR | Exon 11 of 11 | ENSP00000385349.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 39410Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 20678
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at