1-89147643-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_207398.3(GBP7):c.1289G>T(p.Gly430Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000832 in 1,614,134 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G430A) has been classified as Uncertain significance.
Frequency
Consequence
NM_207398.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GBP7 | NM_207398.3 | c.1289G>T | p.Gly430Val | missense_variant | Exon 8 of 11 | ENST00000294671.3 | NP_997281.2 | |
LOC105378842 | XR_001737682.2 | n.109-944C>A | intron_variant | Intron 1 of 3 | ||||
LOC105378842 | XR_947579.3 | n.232-948C>A | intron_variant | Intron 1 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GBP7 | ENST00000294671.3 | c.1289G>T | p.Gly430Val | missense_variant | Exon 8 of 11 | 2 | NM_207398.3 | ENSP00000294671.2 | ||
GBP7 | ENST00000650452.1 | c.1289G>T | p.Gly430Val | missense_variant | Exon 8 of 9 | ENSP00000496924.1 | ||||
GBP2 | ENST00000464839.5 | n.-294G>T | non_coding_transcript_exon_variant | Exon 3 of 15 | 2 | ENSP00000434282.1 | ||||
GBP2 | ENST00000464839.5 | n.-294G>T | 5_prime_UTR_variant | Exon 3 of 15 | 2 | ENSP00000434282.1 |
Frequencies
GnomAD3 genomes AF: 0.000605 AC: 92AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000549 AC: 138AN: 251422Hom.: 1 AF XY: 0.000692 AC XY: 94AN XY: 135882
GnomAD4 exome AF: 0.000856 AC: 1251AN: 1461854Hom.: 1 Cov.: 31 AF XY: 0.000851 AC XY: 619AN XY: 727224
GnomAD4 genome AF: 0.000604 AC: 92AN: 152280Hom.: 0 Cov.: 32 AF XY: 0.000698 AC XY: 52AN XY: 74464
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1289G>T (p.G430V) alteration is located in exon 8 (coding exon 7) of the GBP7 gene. This alteration results from a G to T substitution at nucleotide position 1289, causing the glycine (G) at amino acid position 430 to be replaced by a valine (V). 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