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NM_000516.7(GNAS):c.446A>G (p.His149Arg) AND Pseudohypoparathyroidism type I A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 6, 2022
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:
RCV002253068.2

Allele description [Variation Report for NM_000516.7(GNAS):c.446A>G (p.His149Arg)]

NM_000516.7(GNAS):c.446A>G (p.His149Arg)

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.446A>G (p.His149Arg)
HGVS:
  • NC_000020.11:g.58905396A>G
  • NG_016194.2:g.70657A>G
  • NM_000516.7:c.446A>GMANE SELECT
  • NM_001077488.5:c.449A>G
  • NM_001077489.4:c.401A>G
  • NM_001077490.3:c.*307A>G
  • NM_001309840.2:c.269A>G
  • NM_001309861.2:c.269A>G
  • NM_016592.5:c.*352A>G
  • NM_080425.4:c.2375A>G
  • NM_080426.4:c.404A>G
  • NP_000507.1:p.His149Arg
  • NP_001070956.1:p.His150Arg
  • NP_001070957.1:p.His134Arg
  • NP_001296769.1:p.His90Arg
  • NP_001296790.1:p.His90Arg
  • NP_536350.2:p.His792Arg
  • NP_536351.1:p.His135Arg
  • NC_000020.10:g.57480451A>G
  • NM_000516.5:c.446A>G
Protein change:
H134R
Links:
dbSNP: rs2146208770
NCBI 1000 Genomes Browser:
rs2146208770
Molecular consequence:
  • NM_001077490.3:c.*307A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016592.5:c.*352A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000516.7:c.446A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077488.5:c.449A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077489.4:c.401A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001309840.2:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001309861.2:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080425.4:c.2375A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080426.4:c.404A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pseudohypoparathyroidism type I A (PHP1A)
Synonyms:
PHP IA; Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy with multiple hormone resistance; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007078; MedGen: C3494506; OMIM: 103580

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523189Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 6, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002523189.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024