rs550458778
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_148963.4(GPRC6A):c.2324_2325insC(p.Glu776fs) variant causes a frameshift change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 33)
Consequence
GPRC6A
NM_148963.4 frameshift
NM_148963.4 frameshift
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 7.75
Genes affected
GPRC6A (HGNC:18510): (G protein-coupled receptor class C group 6 member A) Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GPRC6A | NM_148963.4 | c.2324_2325insC | p.Glu776fs | frameshift_variant | Exon 6 of 6 | ENST00000310357.8 | NP_683766.2 | |
GPRC6A | NM_001286355.1 | c.2111_2112insC | p.Glu705fs | frameshift_variant | Exon 5 of 5 | NP_001273284.1 | ||
GPRC6A | NM_001286354.1 | c.1799_1800insC | p.Glu601fs | frameshift_variant | Exon 6 of 6 | NP_001273283.1 | ||
GPRC6A | XM_017010475.2 | c.2183_2184insC | p.Glu729fs | frameshift_variant | Exon 7 of 7 | XP_016865964.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPRC6A | ENST00000310357.8 | c.2324_2325insC | p.Glu776fs | frameshift_variant | Exon 6 of 6 | 1 | NM_148963.4 | ENSP00000309493.4 | ||
GPRC6A | ENST00000368549.7 | c.2111_2112insC | p.Glu705fs | frameshift_variant | Exon 5 of 5 | 1 | ENSP00000357537.3 | |||
GPRC6A | ENST00000530250.1 | c.1799_1800insC | p.Glu601fs | frameshift_variant | Exon 6 of 6 | 1 | ENSP00000433465.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 genomes
Cov.:
33
GnomAD4 exome Cov.: 37
GnomAD4 exome
Cov.:
37
GnomAD4 genome Cov.: 33
GnomAD4 genome
Cov.:
33
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at