17-82051552-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002917.2(RFNG):āc.215G>Cā(p.Gly72Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00001 in 1,397,624 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002917.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RFNG | NM_002917.2 | c.215G>C | p.Gly72Ala | missense_variant | 1/8 | ENST00000310496.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RFNG | ENST00000310496.9 | c.215G>C | p.Gly72Ala | missense_variant | 1/8 | 2 | NM_002917.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151232Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000116 AC: 7AN: 60376Hom.: 0 AF XY: 0.0000848 AC XY: 3AN XY: 35366
GnomAD4 exome AF: 0.00000802 AC: 10AN: 1246392Hom.: 0 Cov.: 33 AF XY: 0.00000979 AC XY: 6AN XY: 613146
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151232Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 73834
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2022 | The c.215G>C (p.G72A) alteration is located in exon 1 (coding exon 1) of the RFNG gene. This alteration results from a G to C substitution at nucleotide position 215, causing the glycine (G) at amino acid position 72 to be replaced by an alanine (A). 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