rs4610880
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_176819.4(DIPK2B):c.498+16876T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.238 in 111,134 control chromosomes in the GnomAD database, including 2,822 homozygotes. There are 7,583 hemizygotes in GnomAD. 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_176819.4 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 |
---|---|---|---|---|---|---|---|
DIPK2B | NM_176819.4 | c.498+16876T>G | intron_variant | ENST00000398000.7 | |||
DIPK2B | NM_024689.3 | c.499-10626T>G | intron_variant | ||||
DIPK2B | XM_005272670.1 | c.498+16876T>G | intron_variant | ||||
DIPK2B | XM_006724559.1 | c.498+16876T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DIPK2B | ENST00000398000.7 | c.498+16876T>G | intron_variant | 5 | NM_176819.4 | P1 | |||
DIPK2B | ENST00000377934.4 | c.499-10626T>G | intron_variant | 1 | |||||
DIPK2B | ENST00000477281.1 | n.87+16972T>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.238 AC: 26391AN: 111083Hom.: 2818 Cov.: 22 AF XY: 0.227 AC XY: 7565AN XY: 33309
GnomAD4 genome ? AF: 0.238 AC: 26411AN: 111134Hom.: 2822 Cov.: 22 AF XY: 0.227 AC XY: 7583AN XY: 33370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at