NM_000516.7(GNAS):c.112del (p.Arg38fs) AND Pseudopseudohypoparathyroidism

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2000
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:: RCV000017319.26

Allele description [Variation Report for NM_000516.7(GNAS):c.112del (p.Arg38fs)]

NM_000516.7(GNAS):c.112del (p.Arg38fs)

Gene:

GNAS:GNAS complex locus [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

20q13.32

Genomic location:

Preferred name:

NM_000516.7(GNAS):c.112del (p.Arg38fs)

HGVS:

NC_000020.11:g.58891838del
NG_016194.2:g.57099del
NM_000516.7:c.112delMANE SELECT
NM_001077488.5:c.112del
NM_001077489.4:c.112del
NM_001077490.3:c.*1-3774del
NM_001309840.2:c.-39+2485del
NM_001309842.2:c.112del
NM_001309861.2:c.-38-3774del
NM_001309883.1:c.*159-3774del
NM_016592.5:c.*43-3774del
NM_080425.4:c.2069-3774del
NM_080426.4:c.112del
NP_000507.1:p.Arg38fs
NP_001070956.1:p.Arg38fs
NP_001070957.1:p.Arg38fs
NP_001296771.1:p.Arg38fs
NP_536351.1:p.Arg38fs
NC_000020.10:g.57466893del

Protein change:

R38fs

Links:

OMIM: 139320.0025; dbSNP: rs2145916486

NCBI 1000 Genomes Browser:

rs2145916486

Molecular consequence:

NM_000516.7:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077488.5:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077489.4:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001309842.2:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080426.4:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077490.3:c.*1-3774del - intron variant - [Sequence Ontology: SO:0001627]
NM_001309840.2:c.-39+2485del - intron variant - [Sequence Ontology: SO:0001627]
NM_001309861.2:c.-38-3774del - intron variant - [Sequence Ontology: SO:0001627]
NM_001309883.1:c.*159-3774del - intron variant - [Sequence Ontology: SO:0001627]
NM_016592.5:c.*43-3774del - intron variant - [Sequence Ontology: SO:0001627]
NM_080425.4:c.2069-3774del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000037591	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037591

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2000)

germline

literature only

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.

Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, Beck-Peccoz P, Spada A.

J Clin Endocrinol Metab. 2000 Nov;85(11):4243-8.

PubMed [citation]

PMID:: 11095461

Details of each submission

From OMIM, SCV000037591.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an Italian patient with pseudohypoparathyroidism type Ia (103580), Mantovani et al. (2000) detected a heterozygous 1-bp deletion (C) within codon 38 in exon 1 of the GNAS1 gene, resulting in a premature stop codon at position 57. This mutation was also found in the patient's mother, who had pseudopseudohypoparathyroidism (612463).

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

Last Updated: Dec 24, 2023

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