chr17-74439908-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_022036.4(GPRC5C):c.132C>A(p.Asp44Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000174 in 1,612,776 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022036.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GPRC5C | NM_022036.4 | c.132C>A | p.Asp44Glu | missense_variant | Exon 2 of 4 | ENST00000392627.7 | NP_071319.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000799 AC: 2AN: 250242Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135404
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1460542Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 10AN XY: 726692
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.267C>A (p.D89E) alteration is located in exon 2 (coding exon 2) of the GPRC5C gene. This alteration results from a C to A substitution at nucleotide position 267, causing the aspartic acid (D) at amino acid position 89 to be replaced by a glutamic acid (E). 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