rs550458778

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

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 7.75
Variant links:
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
GPRC6ANM_148963.4 linkc.2324_2325insC p.Glu776fs frameshift_variant Exon 6 of 6 ENST00000310357.8 NP_683766.2 Q5T6X5-1
GPRC6ANM_001286355.1 linkc.2111_2112insC p.Glu705fs frameshift_variant Exon 5 of 5 NP_001273284.1 Q5T6X5-3
GPRC6ANM_001286354.1 linkc.1799_1800insC p.Glu601fs frameshift_variant Exon 6 of 6 NP_001273283.1 Q5T6X5-2
GPRC6AXM_017010475.2 linkc.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
GPRC6AENST00000310357.8 linkc.2324_2325insC p.Glu776fs frameshift_variant Exon 6 of 6 1 NM_148963.4 ENSP00000309493.4 Q5T6X5-1
GPRC6AENST00000368549.7 linkc.2111_2112insC p.Glu705fs frameshift_variant Exon 5 of 5 1 ENSP00000357537.3 Q5T6X5-3
GPRC6AENST00000530250.1 linkc.1799_1800insC p.Glu601fs frameshift_variant Exon 6 of 6 1 ENSP00000433465.1 Q5T6X5-2

Frequencies

GnomAD3 genomes
Cov.:
33
GnomAD4 exome
Cov.:
37
GnomAD4 genome
Cov.:
33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs550458778; hg19: chr6-117113761; API