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 [Variation Report for NM_000516.7(GNAS):c.753C>G (p.Ser251Arg)]

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:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000882717	Genetic 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 novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000882717

Genetic 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 novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Japanese	de novo	yes	1	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Japanese	1	not provided	not provided	clinical testing	PubMed (1)

Description

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 17, 2022

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