rs9296566
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000359314.5(CD2AP):c.1045+490C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,956 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.
Frequency
Consequence
ENST00000359314.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CD2AP | NM_012120.3 | c.1045+490C>A | intron_variant | ENST00000359314.5 | NP_036252.1 | |||
CD2AP | XM_005248976.2 | c.1033+490C>A | intron_variant | XP_005249033.1 | ||||
CD2AP | XM_011514449.3 | c.898+490C>A | intron_variant | XP_011512751.1 | ||||
CD2AP | XM_017010641.2 | c.1045+490C>A | intron_variant | XP_016866130.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD2AP | ENST00000359314.5 | c.1045+490C>A | intron_variant | 1 | NM_012120.3 | ENSP00000352264 | P1 | |||
CD2AP | ENST00000479857.1 | n.133+490C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151838Hom.: 0 Cov.: 32
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151956Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74252
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.