12-49901210-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012306.4(FAIM2):āc.131G>Cā(p.Gly44Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000103 in 1,611,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_012306.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAIM2 | NM_012306.4 | c.131G>C | p.Gly44Ala | missense_variant | 2/12 | ENST00000320634.8 | NP_036438.2 | |
FAIM2 | XM_005268730.4 | c.-970G>C | upstream_gene_variant | XP_005268787.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAIM2 | ENST00000320634.8 | c.131G>C | p.Gly44Ala | missense_variant | 2/12 | 1 | NM_012306.4 | ENSP00000321951.3 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000526 AC: 13AN: 247380Hom.: 0 AF XY: 0.0000447 AC XY: 6AN XY: 134094
GnomAD4 exome AF: 0.000110 AC: 160AN: 1459560Hom.: 0 Cov.: 31 AF XY: 0.000109 AC XY: 79AN XY: 726062
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 21, 2024 | The c.131G>C (p.G44A) alteration is located in exon 2 (coding exon 2) of the FAIM2 gene. This alteration results from a G to C substitution at nucleotide position 131, causing the glycine (G) at amino acid position 44 to be replaced by an alanine (A). 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