9-121678705-G-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001395010.1(DAB2IP):c.152G>T(p.Arg51Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000265 in 1,587,852 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. R51Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001395010.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DAB2IP | NM_001395010.1 | c.152G>T | p.Arg51Leu | missense_variant | 2/16 | ENST00000408936.8 | |
DAB2IP | NM_032552.4 | c.68G>T | p.Arg23Leu | missense_variant | 2/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DAB2IP | ENST00000408936.8 | c.152G>T | p.Arg51Leu | missense_variant | 2/16 | 5 | NM_001395010.1 | A1 |
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000367 AC: 8AN: 217852Hom.: 0 AF XY: 0.0000420 AC XY: 5AN XY: 119016
GnomAD4 exome AF: 0.00000906 AC: 13AN: 1435538Hom.: 0 Cov.: 30 AF XY: 0.00000984 AC XY: 7AN XY: 711404
GnomAD4 genome AF: 0.000190 AC: 29AN: 152314Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74476
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 06, 2022 | The c.68G>T (p.R23L) alteration is located in exon 2 (coding exon 2) of the DAB2IP gene. This alteration results from a G to T substitution at nucleotide position 68, causing the arginine (R) at amino acid position 23 to be replaced by a leucine (L). 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