chr2-68467786-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173545.3(APLF):c.55G>A(p.Ala19Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000647 in 1,082,024 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173545.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APLF | NM_173545.3 | c.55G>A | p.Ala19Thr | missense_variant | 1/10 | ENST00000303795.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APLF | ENST00000303795.9 | c.55G>A | p.Ala19Thr | missense_variant | 1/10 | 1 | NM_173545.3 | P1 | |
APLF | ENST00000445692.5 | c.55G>A | p.Ala19Thr | missense_variant, NMD_transcript_variant | 1/11 | 5 | |||
APLF | ENST00000529851.5 | c.55G>A | p.Ala19Thr | missense_variant, NMD_transcript_variant | 1/9 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000647 AC: 7AN: 1082024Hom.: 0 Cov.: 30 AF XY: 0.00000391 AC XY: 2AN XY: 511108
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.