rs2242345
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005702.4(ERAL1):c.945C>G(p.Asp315Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. Synonymous variant affecting the same amino acid position (i.e. D315D) has been classified as Benign.
Frequency
Consequence
NM_005702.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERAL1 | NM_005702.4 | c.945C>G | p.Asp315Glu | missense_variant | 7/10 | ENST00000254928.10 | |
ERAL1 | NM_001317985.2 | c.942C>G | p.Asp314Glu | missense_variant | 7/10 | ||
ERAL1 | NM_001317986.2 | c.712-155C>G | intron_variant | ||||
ERAL1 | NR_134328.2 | n.789-155C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERAL1 | ENST00000254928.10 | c.945C>G | p.Asp315Glu | missense_variant | 7/10 | 1 | NM_005702.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 73
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at