rs368795540
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4BP6
The NM_031475.3(ESPN):āc.2215C>Gā(p.Leu739Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000144 in 1,608,484 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_031475.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152230Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000584 AC: 14AN: 239744Hom.: 0 AF XY: 0.0000538 AC XY: 7AN XY: 130218
GnomAD4 exome AF: 0.000144 AC: 210AN: 1456254Hom.: 0 Cov.: 32 AF XY: 0.000126 AC XY: 91AN XY: 723948
GnomAD4 genome AF: 0.000145 AC: 22AN: 152230Hom.: 0 Cov.: 33 AF XY: 0.000188 AC XY: 14AN XY: 74360
ClinVar
Submissions by phenotype
not provided Uncertain:1
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge -
not specified Benign:1
p.Leu739Val in exon 10 of ESPN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 3 mammals (pika, manatee, and Tasmanian devil) have a valine (Val) at this position despite high nearby amino acid conservation. It has also been identifie d in 5/41504 European chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs368795540). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at