10-132117492-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001323087.2(JAKMIP3):c.551C>A(p.Ala184Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,612,354 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001323087.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
JAKMIP3 | NM_001323087.2 | c.551C>A | p.Ala184Glu | missense_variant | Exon 3 of 24 | ENST00000684848.1 | NP_001310016.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3 | ENST00000684848.1 | c.551C>A | p.Ala184Glu | missense_variant | Exon 3 of 24 | NM_001323087.2 | ENSP00000508932.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243960Hom.: 0 AF XY: 0.00000753 AC XY: 1AN XY: 132760
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460204Hom.: 0 Cov.: 33 AF XY: 0.00000551 AC XY: 4AN XY: 726308
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.551C>A (p.A184E) alteration is located in exon 2 (coding exon 2) of the JAKMIP3 gene. This alteration results from a C to A substitution at nucleotide position 551, causing the alanine (A) at amino acid position 184 to be replaced by a glutamic acid (E). 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