rs2287345
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_015701.5(ERLEC1):āc.952G>Cā(p.Val318Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.075 in 1,614,000 control chromosomes in the GnomAD database, including 5,235 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. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V318A) has been classified as Uncertain significance.
Frequency
Consequence
NM_015701.5 missense
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 |
---|---|---|---|---|---|---|---|
ERLEC1 | NM_015701.5 | c.952G>C | p.Val318Leu | missense_variant | 9/14 | ENST00000185150.9 | |
GPR75-ASB3 | NM_001164165.2 | c.102-42786C>G | intron_variant | ||||
ERLEC1 | NM_001127397.3 | c.952G>C | p.Val318Leu | missense_variant | 9/13 | ||
ERLEC1 | NM_001127398.3 | c.880-843G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERLEC1 | ENST00000185150.9 | c.952G>C | p.Val318Leu | missense_variant | 9/14 | 1 | NM_015701.5 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0782 AC: 11896AN: 152182Hom.: 506 Cov.: 33
GnomAD3 exomes AF: 0.0965 AC: 24243AN: 251176Hom.: 1498 AF XY: 0.0941 AC XY: 12777AN XY: 135754
GnomAD4 exome AF: 0.0747 AC: 109167AN: 1461700Hom.: 4727 Cov.: 33 AF XY: 0.0752 AC XY: 54708AN XY: 727166
GnomAD4 genome ? AF: 0.0781 AC: 11901AN: 152300Hom.: 508 Cov.: 33 AF XY: 0.0788 AC XY: 5868AN XY: 74482
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at