4-7967055-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001130083.2(ABLIM2):c.1873G>A(p.Glu625Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000235 in 1,613,750 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. E625Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001130083.2 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 |
---|---|---|---|---|---|---|---|---|
ABLIM2 | NM_001130083.2 | c.1873G>A | p.Glu625Lys | missense_variant | Exon 21 of 21 | ENST00000447017.7 | NP_001123555.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152142Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249086Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135180
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461608Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727100
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152142Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1873G>A (p.E625K) alteration is located in exon 21 (coding exon 21) of the ABLIM2 gene. This alteration results from a G to A substitution at nucleotide position 1873, causing the glutamic acid (E) at amino acid position 625 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