rs760615529
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_005262.3(GFER):c.63C>A(p.Gly21Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000755 in 1,325,160 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005262.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GFER | ENST00000248114.7 | c.63C>A | p.Gly21Gly | synonymous_variant | Exon 1 of 3 | 1 | NM_005262.3 | ENSP00000248114.6 | ||
GFER | ENST00000561710.1 | c.24C>A | p.Gly8Gly | synonymous_variant | Exon 1 of 2 | 2 | ENSP00000456189.1 | |||
GFER | ENST00000569451.1 | c.63C>A | p.Gly21Gly | synonymous_variant | Exon 1 of 2 | 5 | ENSP00000456432.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.55e-7 AC: 1AN: 1325160Hom.: 0 Cov.: 32 AF XY: 0.00000153 AC XY: 1AN XY: 652876
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.