chr13-113731321-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM5
The NM_002929.3(GRK1):c.1172C>T(p.Pro391Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000195 in 1,536,978 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P391H) has been classified as Likely pathogenic.
Frequency
Consequence
NM_002929.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRK1 | NM_002929.3 | c.1172C>T | p.Pro391Leu | missense_variant | 5/7 | ENST00000335678.7 | |
GRK1 | XM_047430493.1 | c.467C>T | p.Pro156Leu | missense_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRK1 | ENST00000335678.7 | c.1172C>T | p.Pro391Leu | missense_variant | 5/7 | 1 | NM_002929.3 | P1 | |
GRK1 | ENST00000545304.1 | n.155C>T | non_coding_transcript_exon_variant | 2/4 | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000705 AC: 1AN: 141802Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 75826
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1384766Hom.: 0 Cov.: 31 AF XY: 0.00000146 AC XY: 1AN XY: 683336
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74412
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at