chrX-45151862-C-A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_176819.4(DIPK2B):c.1092G>T(p.Lys364Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000911 in 1,097,332 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict 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. K364K) has been classified as Benign.
Frequency
Consequence
NM_176819.4 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DIPK2B | NM_176819.4 | c.1092G>T | p.Lys364Asn | missense_variant | Exon 5 of 5 | ENST00000398000.7 | NP_789789.2 | |
DIPK2B | XM_005272670.1 | c.918G>T | p.Lys306Asn | missense_variant | Exon 4 of 4 | XP_005272727.1 | ||
DIPK2B | XM_006724559.1 | c.840G>T | p.Lys280Asn | missense_variant | Exon 4 of 4 | XP_006724622.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome AF: 9.11e-7 AC: 1AN: 1097332Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 362802 show subpopulations
GnomAD4 genome Cov.: 24
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at