9-127945742-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001035254.3(EEIG1):c.628G>A(p.Glu210Lys) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001035254.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EEIG1 | ENST00000373095.6 | c.628G>A | p.Glu210Lys | missense_variant | Exon 7 of 11 | 5 | NM_001035254.3 | ENSP00000362187.1 | ||
EEIG1 | ENST00000373084.8 | c.202G>A | p.Glu68Lys | missense_variant | Exon 4 of 8 | 1 | ENSP00000362176.4 | |||
EEIG1 | ENST00000300434.3 | n.312G>A | non_coding_transcript_exon_variant | Exon 2 of 6 | 1 | |||||
EEIG1 | ENST00000465821.5 | n.101G>A | non_coding_transcript_exon_variant | Exon 2 of 5 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1413436Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 698706
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.628G>A (p.E210K) alteration is located in exon 7 (coding exon 7) of the FAM102A gene. This alteration results from a G to A substitution at nucleotide position 628, causing the glutamic acid (E) at amino acid position 210 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.