7-150467137-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_175571.4(GIMAP8):āc.439T>Cā(p.Phe147Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000688 in 1,614,030 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_175571.4 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 |
---|---|---|---|---|---|---|---|---|
GIMAP8 | NM_175571.4 | c.439T>C | p.Phe147Leu | missense_variant | 2/5 | ENST00000307271.4 | NP_783161.1 | |
GIMAP8 | XM_005249950.5 | c.439T>C | p.Phe147Leu | missense_variant | 3/6 | XP_005250007.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GIMAP8 | ENST00000307271.4 | c.439T>C | p.Phe147Leu | missense_variant | 2/5 | 1 | NM_175571.4 | ENSP00000305107.3 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251314Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135816
GnomAD4 exome AF: 0.0000725 AC: 106AN: 1461886Hom.: 0 Cov.: 33 AF XY: 0.0000729 AC XY: 53AN XY: 727244
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 10, 2022 | The c.439T>C (p.F147L) alteration is located in exon 2 (coding exon 1) of the GIMAP8 gene. This alteration results from a T to C substitution at nucleotide position 439, causing the phenylalanine (F) at amino acid position 147 to be replaced by a leucine (L). 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