1-23431121-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_017707.4(ASAP3):c.2551G>A(p.Glu851Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000972 in 1,585,638 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017707.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASAP3 | NM_017707.4 | c.2551G>A | p.Glu851Lys | missense_variant | Exon 24 of 25 | ENST00000336689.8 | NP_060177.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000729 AC: 111AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000576 AC: 115AN: 199684Hom.: 0 AF XY: 0.000550 AC XY: 59AN XY: 107208
GnomAD4 exome AF: 0.000998 AC: 1431AN: 1433278Hom.: 2 Cov.: 31 AF XY: 0.000942 AC XY: 669AN XY: 710220
GnomAD4 genome AF: 0.000729 AC: 111AN: 152360Hom.: 0 Cov.: 33 AF XY: 0.000698 AC XY: 52AN XY: 74512
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2551G>A (p.E851K) alteration is located in exon 24 (coding exon 24) of the ASAP3 gene. This alteration results from a G to A substitution at nucleotide position 2551, causing the glutamic acid (E) at amino acid position 851 to be replaced by a lysine (K). 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