rs1127065
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_001220.5(CAMK2B):āc.1791G>Cā(p.Pro597=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0194 in 1,612,832 control chromosomes in the GnomAD database, including 360 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Synonymous variant affecting the same amino acid position (i.e. P597P) has been classified as Benign.
Frequency
Consequence
NM_001220.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CAMK2B | NM_001220.5 | c.1791G>C | p.Pro597= | synonymous_variant | 23/24 | ENST00000395749.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAMK2B | ENST00000395749.7 | c.1791G>C | p.Pro597= | synonymous_variant | 23/24 | 1 | NM_001220.5 |
Frequencies
GnomAD3 genomes ? AF: 0.0141 AC: 2141AN: 151992Hom.: 20 Cov.: 33
GnomAD3 exomes AF: 0.0170 AC: 4213AN: 248552Hom.: 51 AF XY: 0.0177 AC XY: 2391AN XY: 134856
GnomAD4 exome AF: 0.0199 AC: 29112AN: 1460724Hom.: 340 Cov.: 45 AF XY: 0.0202 AC XY: 14702AN XY: 726648
GnomAD4 genome ? AF: 0.0141 AC: 2142AN: 152108Hom.: 20 Cov.: 33 AF XY: 0.0142 AC XY: 1054AN XY: 74332
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at