chr12-53269289-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_012291.5(ESPL1):c.347C>T(p.Ala116Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00673 in 1,614,154 control chromosomes in the GnomAD database, including 620 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_012291.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ESPL1 | ENST00000257934.9 | c.347C>T | p.Ala116Val | missense_variant | Exon 3 of 31 | 5 | NM_012291.5 | ENSP00000257934.4 | ||
ESPL1 | ENST00000553219.6 | c.347C>T | p.Ala116Val | missense_variant | Exon 3 of 3 | 2 | ENSP00000456450.2 | |||
ESPL1 | ENST00000552671.5 | n.*278C>T | non_coding_transcript_exon_variant | Exon 3 of 31 | 2 | ENSP00000447054.1 | ||||
ESPL1 | ENST00000552671.5 | n.*278C>T | 3_prime_UTR_variant | Exon 3 of 31 | 2 | ENSP00000447054.1 |
Frequencies
GnomAD3 genomes AF: 0.0351 AC: 5341AN: 152192Hom.: 296 Cov.: 32
GnomAD3 exomes AF: 0.00923 AC: 2320AN: 251250Hom.: 137 AF XY: 0.00682 AC XY: 926AN XY: 135820
GnomAD4 exome AF: 0.00377 AC: 5518AN: 1461842Hom.: 325 Cov.: 34 AF XY: 0.00324 AC XY: 2354AN XY: 727216
GnomAD4 genome AF: 0.0351 AC: 5348AN: 152312Hom.: 295 Cov.: 32 AF XY: 0.0347 AC XY: 2587AN XY: 74470
ClinVar
Submissions by phenotype
ESPL1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at