9-127943218-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001035254.3(EEIG1):c.1129G>A(p.Glu377Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000805 in 1,614,050 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EEIG1 | ENST00000373095.6 | c.1129G>A | p.Glu377Lys | missense_variant | Exon 11 of 11 | 5 | NM_001035254.3 | ENSP00000362187.1 | ||
EEIG1 | ENST00000373084.8 | c.703G>A | p.Glu235Lys | missense_variant | Exon 8 of 8 | 1 | ENSP00000362176.4 | |||
EEIG1 | ENST00000300434.3 | n.813G>A | non_coding_transcript_exon_variant | Exon 6 of 6 | 1 | |||||
EEIG1 | ENST00000465821.5 | n.1979G>A | non_coding_transcript_exon_variant | Exon 5 of 5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251442Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135904
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461852Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727222
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152198Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1129G>A (p.E377K) alteration is located in exon 11 (coding exon 11) of the FAM102A gene. This alteration results from a G to A substitution at nucleotide position 1129, causing the glutamic acid (E) at amino acid position 377 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