1-108560531-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001010883.3(EEIG2):c.103C>A(p.Leu35Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,611,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001010883.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EEIG2 | ENST00000370035.8 | c.103C>A | p.Leu35Met | missense_variant | Exon 1 of 11 | 1 | NM_001010883.3 | ENSP00000359052.3 | ||
EEIG2 | ENST00000405454.1 | c.103C>A | p.Leu35Met | missense_variant | Exon 1 of 11 | 5 | ENSP00000386084.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151880Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459200Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726018
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151880Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74196
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.103C>A (p.L35M) alteration is located in exon 1 (coding exon 1) of the FAM102B gene. This alteration results from a C to A substitution at nucleotide position 103, causing the leucine (L) at amino acid position 35 to be replaced by a methionine (M). 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