chr12-7128380-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031491.4(RBP5):c.112A>C(p.Lys38Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000104 in 1,614,058 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_031491.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBP5 | NM_031491.4 | c.112A>C | p.Lys38Gln | missense_variant | 2/4 | ENST00000266560.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBP5 | ENST00000266560.8 | c.112A>C | p.Lys38Gln | missense_variant | 2/4 | 1 | NM_031491.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000167 AC: 42AN: 251452Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135894
GnomAD4 exome AF: 0.000105 AC: 154AN: 1461888Hom.: 0 Cov.: 32 AF XY: 0.000111 AC XY: 81AN XY: 727246
GnomAD4 genome ? AF: 0.0000920 AC: 14AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 11, 2022 | The c.112A>C (p.K38Q) alteration is located in exon 2 (coding exon 2) of the RBP5 gene. This alteration results from a A to C substitution at nucleotide position 112, causing the lysine (K) at amino acid position 38 to be replaced by a glutamine (Q). 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