8-9008052-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_153332.4(ERI1):c.191C>A(p.Pro64Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,460,534 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P64S) has been classified as Uncertain significance.
Frequency
Consequence
NM_153332.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERI1 | NM_153332.4 | c.191C>A | p.Pro64Gln | missense_variant | 2/7 | ENST00000250263.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERI1 | ENST00000250263.8 | c.191C>A | p.Pro64Gln | missense_variant | 2/7 | 1 | NM_153332.4 | P1 | |
ERI1 | ENST00000519292.5 | c.191C>A | p.Pro64Gln | missense_variant | 2/8 | 2 | P1 | ||
ERI1 | ENST00000520684.5 | c.191C>A | p.Pro64Gln | missense_variant, NMD_transcript_variant | 2/6 | 5 | |||
ERI1 | ENST00000521844.1 | downstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 29
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251186Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135750
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460534Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 726520
GnomAD4 genome ? Cov.: 29
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 04, 2023 | The c.191C>A (p.P64Q) alteration is located in exon 2 (coding exon 2) of the ERI1 gene. This alteration results from a C to A substitution at nucleotide position 191, causing the proline (P) at amino acid position 64 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at