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NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) AND Polyostotic fibrous dysplasia, somatic, mosaic

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2003
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000017298.12

Allele description [Variation Report for NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)]

NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)

Gene:
GNAS:GNAS complex locus [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.32
Genomic location:
Preferred name:
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)
HGVS:
  • NC_000020.11:g.58909365C>A
  • NG_016194.2:g.74626C>A
  • NM_000516.7:c.601C>AMANE SELECT
  • NM_001077488.5:c.604C>A
  • NM_001077489.4:c.556C>A
  • NM_001077490.3:c.*462C>A
  • NM_001309840.2:c.424C>A
  • NM_001309861.2:c.424C>A
  • NM_016592.5:c.*507C>A
  • NM_080425.4:c.2530C>A
  • NM_080426.4:c.559C>A
  • NP_000507.1:p.Arg201Ser
  • NP_001070956.1:p.Arg202Ser
  • NP_001070957.1:p.Arg186Ser
  • NP_001296769.1:p.Arg142Ser
  • NP_001296790.1:p.Arg142Ser
  • NP_536350.2:p.Arg844Ser
  • NP_536351.1:p.Arg187Ser
  • NC_000020.10:g.57484420C>A
  • NM_000516.4:c.601C>A
  • P63092:p.Arg201Ser
Protein change:
R142S; ARG201SER
Links:
UniProtKB: P63092#VAR_017846; OMIM: 139320.0013; dbSNP: rs11554273
NCBI 1000 Genomes Browser:
rs11554273
Molecular consequence:
  • NM_001077490.3:c.*462C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016592.5:c.*507C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000516.7:c.601C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077488.5:c.604C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077489.4:c.556C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001309840.2:c.424C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001309861.2:c.424C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080425.4:c.2530C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080426.4:c.559C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Polyostotic fibrous dysplasia, somatic, mosaic
Identifiers:
MedGen: C2675383

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037570OMIM
no assertion criteria provided
Pathogenic
(May 1, 2003) 		somaticliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients.

Yang I, Park S, Ryu M, Woo J, Kim S, Kim J, Kim Y, Choi Y.

Eur J Endocrinol. 1996 Jun;134(6):720-6.

PubMed [citation]
PMID:
8766942

Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone.

Candeliere GA, Roughley PJ, Glorieux FH.

Bone. 1997 Aug;21(2):201-6.

PubMed [citation]
PMID:
9267696
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000037570.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In a series of growth hormone-secreting pituitary tumors (PITA3; 617686) derived from 21 Korean acromegalic patients, Yang et al. (1996) found that 1 tumor had a somatic C-to-A transversion in the GNAS1 gene, resulting in an arg201-to-ser (R201S) substitution.

Candeliere et al. (1997) reported a patient with polyostotic fibrous dysplasia (see 174800) in whom the R201S mutation was identified in the somatic mosaic state.

Fragoso et al. (2003) identified a heterozygous somatic R201S mutation in adrenal tissue from a patient with ACTH-independent macronodular adrenal hyperplasia (219080).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024