rs6580942
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 1P and 12B. PP2BP4_StrongBA1
The NM_012291.5(ESPL1):c.74C>A(p.Ala25Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.716 in 1,608,306 control chromosomes in the GnomAD database, including 420,151 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_012291.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ESPL1 | NM_012291.5 | c.74C>A | p.Ala25Asp | missense_variant | 2/31 | ENST00000257934.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ESPL1 | ENST00000257934.9 | c.74C>A | p.Ala25Asp | missense_variant | 2/31 | 5 | NM_012291.5 | P1 | |
ESPL1 | ENST00000553219.6 | c.74C>A | p.Ala25Asp | missense_variant | 2/3 | 2 | |||
ESPL1 | ENST00000552671.5 | c.74C>A | p.Ala25Asp | missense_variant, NMD_transcript_variant | 2/31 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.782 AC: 118847AN: 151964Hom.: 47740 Cov.: 31
GnomAD3 exomes AF: 0.772 AC: 189898AN: 245924Hom.: 74932 AF XY: 0.768 AC XY: 102000AN XY: 132760
GnomAD4 exome AF: 0.710 AC: 1033250AN: 1456224Hom.: 372346 Cov.: 36 AF XY: 0.713 AC XY: 516544AN XY: 724178
GnomAD4 genome ? AF: 0.782 AC: 118971AN: 152082Hom.: 47805 Cov.: 31 AF XY: 0.786 AC XY: 58446AN XY: 74320
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at