chr6-116792687-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_148963.4(GPRC6A):c.2236G>A(p.Glu746Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000254 in 1,613,144 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_148963.4 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 |
---|---|---|---|---|---|---|---|---|
GPRC6A | NM_148963.4 | c.2236G>A | p.Glu746Lys | missense_variant | Exon 6 of 6 | ENST00000310357.8 | NP_683766.2 | |
GPRC6A | NM_001286355.1 | c.2023G>A | p.Glu675Lys | missense_variant | Exon 5 of 5 | NP_001273284.1 | ||
GPRC6A | NM_001286354.1 | c.1711G>A | p.Glu571Lys | missense_variant | Exon 6 of 6 | NP_001273283.1 | ||
GPRC6A | XM_017010475.2 | c.2095G>A | p.Glu699Lys | missense_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.2236G>A | p.Glu746Lys | missense_variant | Exon 6 of 6 | 1 | NM_148963.4 | ENSP00000309493.4 | ||
GPRC6A | ENST00000368549.7 | c.2023G>A | p.Glu675Lys | missense_variant | Exon 5 of 5 | 1 | ENSP00000357537.3 | |||
GPRC6A | ENST00000530250.1 | c.1711G>A | p.Glu571Lys | missense_variant | Exon 6 of 6 | 1 | ENSP00000433465.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152190Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250222Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135190
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1460954Hom.: 0 Cov.: 37 AF XY: 0.0000248 AC XY: 18AN XY: 726622
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152190Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2236G>A (p.E746K) alteration is located in exon 6 (coding exon 6) of the GPRC6A gene. This alteration results from a G to A substitution at nucleotide position 2236, causing the glutamic acid (E) at amino acid position 746 to be replaced by a lysine (K). 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