rs2274911
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_148963.4(GPRC6A):c.271C>T(p.Pro91Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.728 in 1,611,776 control chromosomes in the GnomAD database, including 429,790 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_148963.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPRC6A | NM_148963.4 | c.271C>T | p.Pro91Ser | missense_variant | 2/6 | ENST00000310357.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPRC6A | ENST00000310357.8 | c.271C>T | p.Pro91Ser | missense_variant | 2/6 | 1 | NM_148963.4 | P1 | |
GPRC6A | ENST00000368549.7 | c.271C>T | p.Pro91Ser | missense_variant | 2/5 | 1 | |||
GPRC6A | ENST00000530250.1 | c.271C>T | p.Pro91Ser | missense_variant | 2/6 | 1 |
Frequencies
GnomAD3 genomes AF: 0.738 AC: 112168AN: 151916Hom.: 41638 Cov.: 32
GnomAD3 exomes AF: 0.717 AC: 180072AN: 251044Hom.: 65321 AF XY: 0.714 AC XY: 96919AN XY: 135670
GnomAD4 exome AF: 0.727 AC: 1061572AN: 1459742Hom.: 388127 Cov.: 35 AF XY: 0.725 AC XY: 526885AN XY: 726326
GnomAD4 genome AF: 0.738 AC: 112245AN: 152034Hom.: 41663 Cov.: 32 AF XY: 0.733 AC XY: 54492AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at