6-88904783-C-T
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003800.5(RNGTT):c.616G>A(p.Gly206Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,868 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. G206E) has been classified as Uncertain significance.
Frequency
Consequence
NM_003800.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_003800.5. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| RNGTT | NM_003800.5 | MANE Select | c.616G>A | p.Gly206Arg | missense | Exon 6 of 16 | NP_003791.3 | ||
| RNGTT | NM_001286426.2 | c.616G>A | p.Gly206Arg | missense | Exon 6 of 15 | NP_001273355.1 | |||
| RNGTT | NM_001286428.2 | c.436G>A | p.Gly146Arg | missense | Exon 5 of 14 | NP_001273357.1 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| RNGTT | ENST00000369485.9 | TSL:1 MANE Select | c.616G>A | p.Gly206Arg | missense | Exon 6 of 16 | ENSP00000358497.4 | ||
| RNGTT | ENST00000369475.7 | TSL:1 | c.616G>A | p.Gly206Arg | missense | Exon 6 of 15 | ENSP00000358487.4 | ||
| RNGTT | ENST00000538899.2 | TSL:1 | c.616G>A | p.Gly206Arg | missense | Exon 6 of 12 | ENSP00000442609.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461868Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727238 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 32
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at