chrX-45191866-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_176819.4(DIPK2B):c.383G>A(p.Arg128Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.354 in 1,209,514 control chromosomes in the GnomAD database, including 54,780 homozygotes. There are 143,209 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_176819.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DIPK2B | NM_176819.4 | c.383G>A | p.Arg128Lys | missense_variant | 2/5 | ENST00000398000.7 | |
DIPK2B | NM_024689.3 | c.383G>A | p.Arg128Lys | missense_variant | 2/3 | ||
DIPK2B | XM_005272670.1 | c.383G>A | p.Arg128Lys | missense_variant | 2/4 | ||
DIPK2B | XM_006724559.1 | c.383G>A | p.Arg128Lys | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DIPK2B | ENST00000398000.7 | c.383G>A | p.Arg128Lys | missense_variant | 2/5 | 5 | NM_176819.4 | P1 | |
ENST00000450527.5 | n.94+8522C>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.326 AC: 36274AN: 111341Hom.: 4647 Cov.: 23 AF XY: 0.330 AC XY: 11069AN XY: 33551
GnomAD3 exomes AF: 0.423 AC: 77375AN: 183077Hom.: 11752 AF XY: 0.419 AC XY: 28316AN XY: 67533
GnomAD4 exome AF: 0.357 AC: 392210AN: 1098118Hom.: 50134 Cov.: 35 AF XY: 0.363 AC XY: 132114AN XY: 363486
GnomAD4 genome AF: 0.326 AC: 36290AN: 111396Hom.: 4646 Cov.: 23 AF XY: 0.330 AC XY: 11095AN XY: 33616
ClinVar
Submissions by phenotype
DIPK2B-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 16, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at