chr6-24806467-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001286445.3(RIPOR2):c.3050A>G(p.Asp1017Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000215 in 1,398,144 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 (★).
Frequency
Consequence
NM_001286445.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RIPOR2 | NM_001286445.3 | c.3050A>G | p.Asp1017Gly | missense_variant | 22/22 | ENST00000643898.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIPOR2 | ENST00000643898.2 | c.3050A>G | p.Asp1017Gly | missense_variant | 22/22 | NM_001286445.3 | A2 | ||
RIPOR2 | ENST00000259698.9 | c.3113A>G | p.Asp1038Gly | missense_variant | 23/23 | 1 | A2 | ||
RIPOR2 | ENST00000613507.4 | c.3113A>G | p.Asp1038Gly | missense_variant | 23/23 | 5 | A2 | ||
RIPOR2 | ENST00000538035.6 | c.2963A>G | p.Asp988Gly | missense_variant | 22/22 | 2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000215 AC: 3AN: 1398144Hom.: 0 Cov.: 31 AF XY: 0.00000290 AC XY: 2AN XY: 689618
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 13, 2023 | The c.3113A>G (p.D1038G) alteration is located in exon 23 (coding exon 22) of the FAM65B gene. This alteration results from a A to G substitution at nucleotide position 3113, causing the aspartic acid (D) at amino acid position 1038 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.