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NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) AND Pseudopseudohypoparathyroidism

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 8, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000754872.1

Allele description

NM_000516.7(GNAS):c.753C>G (p.Ser251Arg)

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.753C>G (p.Ser251Arg)
HGVS:
  • NC_000020.11:g.58909718C>G
  • NG_016194.2:g.74979C>G
  • NM_000516.7:c.753C>GMANE SELECT
  • NM_001077488.5:c.756C>G
  • NM_001077489.4:c.708C>G
  • NM_001077490.3:c.*614C>G
  • NM_001309840.2:c.576C>G
  • NM_001309861.2:c.576C>G
  • NM_016592.5:c.*659C>G
  • NM_080425.4:c.2682C>G
  • NM_080426.4:c.711C>G
  • NP_000507.1:p.Ser251Arg
  • NP_001070956.1:p.Ser252Arg
  • NP_001070957.1:p.Ser236Arg
  • NP_001296769.1:p.Ser192Arg
  • NP_001296790.1:p.Ser192Arg
  • NP_536350.2:p.Ser894Arg
  • NP_536350.2:p.Ser894Arg
  • NP_536351.1:p.Ser237Arg
  • NC_000020.10:g.57484773C>G
  • NM_080425.3:c.2682C>G
Protein change:
S192R
Links:
dbSNP: rs1272546759
NCBI 1000 Genomes Browser:
rs1272546759
Molecular consequence:
  • NM_001077490.3:c.*614C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016592.5:c.*659C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000516.7:c.753C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077488.5:c.756C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077489.4:c.708C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001309840.2:c.576C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001309861.2:c.576C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080425.4:c.2682C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080426.4:c.711C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Pseudopseudohypoparathyroidism (PPHP)
Synonyms:
Albright hereditary osteodystrophy without multiple hormone resistance
Identifiers:
MONDO: MONDO:0012912; MedGen: C0033835; Orphanet: 79445; OMIM: 612463

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000882717Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP)
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Feb 8, 2019)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Japanesede novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP), SCV000882717.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Japanese1not providednot providedclinical testing PubMed (1)

Description

De novo variant and patient's phenotype is highly specific for Pseudopseudohypoparathyroidism.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 17, 2022