rs2296636
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001290223.2(DOCK1):c.3284-15C>T variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.258 in 1,594,248 control chromosomes in the GnomAD database, including 54,328 homozygotes. 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_001290223.2 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOCK1 | NM_001290223.2 | c.3284-15C>T | splice_polypyrimidine_tract_variant, intron_variant | ENST00000623213.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOCK1 | ENST00000623213.2 | c.3284-15C>T | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001290223.2 | ||||
DOCK1 | ENST00000280333.9 | c.3221-15C>T | splice_polypyrimidine_tract_variant, intron_variant | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.232 AC: 35188AN: 151996Hom.: 4148 Cov.: 33
GnomAD3 exomes AF: 0.232 AC: 53825AN: 231856Hom.: 6531 AF XY: 0.239 AC XY: 30058AN XY: 125688
GnomAD4 exome AF: 0.261 AC: 376501AN: 1442134Hom.: 50172 Cov.: 31 AF XY: 0.262 AC XY: 187389AN XY: 716276
GnomAD4 genome ? AF: 0.232 AC: 35215AN: 152114Hom.: 4156 Cov.: 33 AF XY: 0.232 AC XY: 17285AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at