8-21705053-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001495.5(GFRA2):c.977G>A(p.Arg326His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000236 in 1,610,822 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 (★).
Frequency
Consequence
NM_001495.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GFRA2 | NM_001495.5 | c.977G>A | p.Arg326His | missense_variant | 6/9 | ENST00000524240.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GFRA2 | ENST00000524240.6 | c.977G>A | p.Arg326His | missense_variant | 6/9 | 1 | NM_001495.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152006Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000247 AC: 6AN: 243376Hom.: 0 AF XY: 0.0000303 AC XY: 4AN XY: 132016
GnomAD4 exome AF: 0.0000206 AC: 30AN: 1458816Hom.: 0 Cov.: 32 AF XY: 0.0000262 AC XY: 19AN XY: 725300
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152006Hom.: 0 Cov.: 31 AF XY: 0.0000943 AC XY: 7AN XY: 74232
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at