rs11554273
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PM1PM2PM5PP2PP3_StrongPP5
The NM_000516.7(GNAS):c.601C>A(p.Arg201Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,402 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R201G) has been classified as Pathogenic.
Frequency
Consequence
NM_000516.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GNAS | NM_080425.4 | c.2530C>A | p.Arg844Ser | missense_variant | 8/13 | ENST00000371100.9 | |
GNAS | NM_000516.7 | c.601C>A | p.Arg201Ser | missense_variant | 8/13 | ENST00000371085.8 | |
GNAS | NM_016592.5 | c.*507C>A | 3_prime_UTR_variant | 8/13 | ENST00000371075.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GNAS | ENST00000371100.9 | c.2530C>A | p.Arg844Ser | missense_variant | 8/13 | 5 | NM_080425.4 | ||
GNAS | ENST00000371085.8 | c.601C>A | p.Arg201Ser | missense_variant | 8/13 | 1 | NM_000516.7 | ||
GNAS | ENST00000371075.7 | c.*507C>A | 3_prime_UTR_variant | 8/13 | 1 | NM_016592.5 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 152140Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461402Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727046
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74312
ClinVar
Submissions by phenotype
ACTH-independent macronodular adrenal hyperplasia 1 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 2003 | - - |
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 2003 | - - |
Polyostotic fibrous dysplasia, somatic, mosaic Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 2003 | - - |
McCune-Albright syndrome Other:1
not provided, no classification provided | literature only | GeneReviews | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at