chr20-18414380-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001367614.1(DZANK1):c.1267C>G(p.Leu423Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000173 in 1,613,844 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L423P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001367614.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DZANK1 | NM_001367614.1 | c.1267C>G | p.Leu423Val | missense_variant | 12/21 | ENST00000699568.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DZANK1 | ENST00000699568.1 | c.1267C>G | p.Leu423Val | missense_variant | 12/21 | NM_001367614.1 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249180Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135182
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461686Hom.: 0 Cov.: 30 AF XY: 0.0000193 AC XY: 14AN XY: 727126
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 17, 2024 | The c.1210C>G (p.L404V) alteration is located in exon 12 (coding exon 11) of the DZANK1 gene. This alteration results from a C to G substitution at nucleotide position 1210, causing the leucine (L) at amino acid position 404 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at