6-33211901-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002931.4(RING1):c.1018G>A(p.Gly340Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000624 in 1,603,156 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002931.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RING1 | NM_002931.4 | c.1018G>A | p.Gly340Arg | missense_variant | 6/7 | ENST00000374656.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RING1 | ENST00000374656.5 | c.1018G>A | p.Gly340Arg | missense_variant | 6/7 | 1 | NM_002931.4 | P1 | |
RING1 | ENST00000478431.1 | n.1006G>A | non_coding_transcript_exon_variant | 4/5 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000175 AC: 4AN: 228050Hom.: 0 AF XY: 0.0000161 AC XY: 2AN XY: 124026
GnomAD4 exome AF: 0.00000345 AC: 5AN: 1451016Hom.: 0 Cov.: 37 AF XY: 0.00000416 AC XY: 3AN XY: 721234
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.1018G>A (p.G340R) alteration is located in exon 6 (coding exon 5) of the RING1 gene. This alteration results from a G to A substitution at nucleotide position 1018, causing the glycine (G) at amino acid position 340 to be replaced by an arginine (R). 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