12-104304035-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001008394.3(EID3):āc.101A>Gā(p.Glu34Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000023 in 1,612,082 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 (ā ).
Frequency
Consequence
NM_001008394.3 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 |
---|---|---|---|---|---|---|---|
EID3 | NM_001008394.3 | c.101A>G | p.Glu34Gly | missense_variant | 1/1 | ENST00000527879.2 | |
TXNRD1 | NM_001093771.3 | c.415-7255A>G | intron_variant | ENST00000525566.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EID3 | ENST00000527879.2 | c.101A>G | p.Glu34Gly | missense_variant | 1/1 | NM_001008394.3 | P1 | ||
TXNRD1 | ENST00000525566.6 | c.415-7255A>G | intron_variant | 1 | NM_001093771.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152062Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248272Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134930
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1459902Hom.: 0 Cov.: 30 AF XY: 0.0000165 AC XY: 12AN XY: 726280
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152180Hom.: 0 Cov.: 33 AF XY: 0.0000806 AC XY: 6AN XY: 74408
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 30, 2023 | The c.101A>G (p.E34G) alteration is located in exon 1 (coding exon 1) of the EID3 gene. This alteration results from a A to G substitution at nucleotide position 101, causing the glutamic acid (E) at amino acid position 34 to be replaced by a glycine (G). 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