chr2-75493499-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001135032.2(EVA1A):c.196C>T(p.Arg66Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000026 in 1,614,164 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001135032.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EVA1A | NM_001135032.2 | c.196C>T | p.Arg66Cys | missense_variant | 4/4 | ENST00000393913.8 | |
EVA1A | NM_001369524.1 | c.196C>T | p.Arg66Cys | missense_variant | 6/6 | ||
EVA1A | NM_001369525.1 | c.196C>T | p.Arg66Cys | missense_variant | 5/5 | ||
EVA1A | NM_032181.3 | c.196C>T | p.Arg66Cys | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EVA1A | ENST00000393913.8 | c.196C>T | p.Arg66Cys | missense_variant | 4/4 | 1 | NM_001135032.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152192Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251192Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135798
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461854Hom.: 0 Cov.: 30 AF XY: 0.0000316 AC XY: 23AN XY: 727226
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152310Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74482
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 18, 2022 | The c.196C>T (p.R66C) alteration is located in exon 4 (coding exon 2) of the EVA1A gene. This alteration results from a C to T substitution at nucleotide position 196, causing the arginine (R) at amino acid position 66 to be replaced by a cysteine (C). 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