chr8-9008051-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_153332.4(ERI1):c.190C>T(p.Pro64Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,607,766 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. P64Q) 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.190C>T | p.Pro64Ser | missense_variant | 2/7 | ENST00000250263.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERI1 | ENST00000250263.8 | c.190C>T | p.Pro64Ser | missense_variant | 2/7 | 1 | NM_153332.4 | P1 | |
ERI1 | ENST00000519292.5 | c.190C>T | p.Pro64Ser | missense_variant | 2/8 | 2 | P1 | ||
ERI1 | ENST00000520684.5 | c.190C>T | p.Pro64Ser | missense_variant, NMD_transcript_variant | 2/6 | 5 | |||
ERI1 | ENST00000521844.1 | downstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000204 AC: 3AN: 146722Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251202Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135776
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461044Hom.: 0 Cov.: 34 AF XY: 0.0000193 AC XY: 14AN XY: 726780
GnomAD4 genome ? AF: 0.0000204 AC: 3AN: 146722Hom.: 0 Cov.: 28 AF XY: 0.0000282 AC XY: 2AN XY: 70974
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 14, 2023 | The c.190C>T (p.P64S) alteration is located in exon 2 (coding exon 2) of the ERI1 gene. This alteration results from a C to T substitution at nucleotide position 190, causing the proline (P) at amino acid position 64 to be replaced by a serine (S). 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