rs2235306
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_017413.5(APLN):c.68-1329A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.123 in 110,256 control chromosomes in the GnomAD database, including 1,347 homozygotes. There are 3,875 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_017413.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APLN | NM_017413.5 | c.68-1329A>G | intron_variant | ENST00000429967.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APLN | ENST00000429967.3 | c.68-1329A>G | intron_variant | 1 | NM_017413.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.123 AC: 13590AN: 110203Hom.: 1346 Cov.: 21 AF XY: 0.119 AC XY: 3861AN XY: 32511
GnomAD4 genome ? AF: 0.123 AC: 13607AN: 110256Hom.: 1347 Cov.: 21 AF XY: 0.119 AC XY: 3875AN XY: 32574
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at