7-151054284-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004935.4(CDK5):c.720G>A(p.Pro240Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P240P) has been classified as Likely benign.
Frequency
Consequence
NM_004935.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDK5 | NM_004935.4 | c.720G>A | p.Pro240Pro | synonymous_variant | Exon 11 of 12 | ENST00000485972.6 | NP_004926.1 | |
CDK5 | NM_001164410.3 | c.624G>A | p.Pro208Pro | synonymous_variant | Exon 10 of 11 | NP_001157882.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDK5 | ENST00000485972.6 | c.720G>A | p.Pro240Pro | synonymous_variant | Exon 11 of 12 | 1 | NM_004935.4 | ENSP00000419782.1 | ||
CDK5 | ENST00000297518.4 | c.624G>A | p.Pro208Pro | synonymous_variant | Exon 10 of 11 | 1 | ENSP00000297518.4 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152046Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248580Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134938
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461472Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 727014
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152046Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74280
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at