7-150520503-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153236.4(GIMAP7):c.529G>C(p.Glu177Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000241 in 1,614,226 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153236.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GIMAP7 | NM_153236.4 | c.529G>C | p.Glu177Gln | missense_variant | 2/2 | ENST00000313543.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GIMAP7 | ENST00000313543.5 | c.529G>C | p.Glu177Gln | missense_variant | 2/2 | 1 | NM_153236.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000269 AC: 41AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000219 AC: 55AN: 251426Hom.: 0 AF XY: 0.000213 AC XY: 29AN XY: 135882
GnomAD4 exome AF: 0.000238 AC: 348AN: 1461892Hom.: 1 Cov.: 34 AF XY: 0.000215 AC XY: 156AN XY: 727248
GnomAD4 genome ? AF: 0.000269 AC: 41AN: 152334Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74506
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 28, 2022 | The c.529G>C (p.E177Q) alteration is located in exon 2 (coding exon 1) of the GIMAP7 gene. This alteration results from a G to C substitution at nucleotide position 529, causing the glutamic acid (E) at amino acid position 177 to be replaced by a glutamine (Q). 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