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NM_000516.7(GNAS):c.296T>C (p.Leu99Pro) AND Pseudohypoparathyroidism

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 30, 2013
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:
RCV000017285.25

Allele description [Variation Report for NM_000516.7(GNAS):c.296T>C (p.Leu99Pro)]

NM_000516.7(GNAS):c.296T>C (p.Leu99Pro)

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.296T>C (p.Leu99Pro)
HGVS:
  • NC_000020.11:g.58903569T>C
  • NG_016194.2:g.68830T>C
  • NM_000516.7:c.296T>CMANE SELECT
  • NM_001077488.5:c.299T>C
  • NM_001077489.4:c.251T>C
  • NM_001077490.3:c.*157T>C
  • NM_001309840.2:c.119T>C
  • NM_001309861.2:c.119T>C
  • NM_016592.5:c.*202T>C
  • NM_080425.4:c.2225T>C
  • NM_080426.4:c.254T>C
  • NP_000507.1:p.Leu99Pro
  • NP_001070956.1:p.Leu100Pro
  • NP_001070957.1:p.Leu84Pro
  • NP_001296769.1:p.Leu40Pro
  • NP_001296790.1:p.Leu40Pro
  • NP_536350.2:p.Leu742Pro
  • NP_536351.1:p.Leu85Pro
  • NC_000020.10:g.57478624T>C
Protein change:
L100P; LEU99PRO
Links:
OMIM: 139320.0006; dbSNP: rs137854531
NCBI 1000 Genomes Browser:
rs137854531
Molecular consequence:
  • NM_001077490.3:c.*157T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016592.5:c.*202T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000516.7:c.296T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077488.5:c.299T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077489.4:c.251T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001309840.2:c.119T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001309861.2:c.119T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080425.4:c.2225T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080426.4:c.254T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pseudohypoparathyroidism (PHP1A)
Identifiers:
MONDO: MONDO:0019992; MedGen: C0033806; Orphanet: 79443; Human Phenotype Ontology: HP:0000852

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037557OMIM
no assertion criteria provided
Pathogenic
(Sep 30, 2013) 		germlineliterature only

Levine, M. A., Deily, J. R. Identification of multiple mutations in the gene encoding the alpha subunit of Gs in patients with pseudohypoparathyroidism type IA. (Abstract) J. Bone Miner. Res. 5: S142-only, 1990.

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Summary from all submissions

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

Details of each submission

From OMIM, SCV000037557.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In affected members of a family with PHP Ia (103580), Levine and Deily (1990) identified a heterozygous T-to-C transition in the GNAS gene, resulting in a leu99-to-pro (L99P) substitution.

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

Last Updated: Sep 17, 2022