NM_014570.5:c.40A>C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014570.5(ARFGAP3):c.40A>C(p.Lys14Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000022 in 1,362,940 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 (★).
Frequency
Consequence
NM_014570.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARFGAP3 | NM_014570.5 | c.40A>C | p.Lys14Gln | missense_variant | Exon 1 of 16 | ENST00000263245.10 | NP_055385.3 | |
ARFGAP3 | NM_001142293.2 | c.40A>C | p.Lys14Gln | missense_variant | Exon 1 of 15 | NP_001135765.1 | ||
ARFGAP3 | XM_005261525.5 | c.40A>C | p.Lys14Gln | missense_variant | Exon 1 of 15 | XP_005261582.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000220 AC: 3AN: 1362940Hom.: 0 Cov.: 30 AF XY: 0.00000297 AC XY: 2AN XY: 672514
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.40A>C (p.K14Q) alteration is located in exon 1 (coding exon 1) of the ARFGAP3 gene. This alteration results from a A to C substitution at nucleotide position 40, causing the lysine (K) at amino acid position 14 to be replaced by a glutamine (Q). 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
Publications
No publications associated with this variant yet.