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NM_000516.7(GNAS):c.936T>C (p.Phe312=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 20, 2021
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:
RCV002496023.1

Allele description [Variation Report for NM_000516.7(GNAS):c.936T>C (p.Phe312=)]

NM_000516.7(GNAS):c.936T>C (p.Phe312=)

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.936T>C (p.Phe312=)
HGVS:
  • NC_000020.11:g.58910047T>C
  • NG_016194.2:g.75308T>C
  • NM_000516.5:c.936T>C
  • NM_000516.7:c.936T>CMANE SELECT
  • NM_001077488.5:c.939T>C
  • NM_001077489.4:c.891T>C
  • NM_001077490.3:c.*797T>C
  • NM_001309840.2:c.759T>C
  • NM_001309861.2:c.759T>C
  • NM_016592.5:c.*842T>C
  • NM_080425.4:c.2865T>C
  • NM_080426.4:c.894T>C
  • NP_000507.1:p.Phe312=
  • NP_001070956.1:p.Phe313=
  • NP_001070957.1:p.Phe297=
  • NP_001296769.1:p.Phe253=
  • NP_001296790.1:p.Phe253=
  • NP_536350.2:p.Phe955=
  • NP_536351.1:p.Phe298=
  • NC_000020.10:g.57485102T>C
  • NM_080425.3:c.2865T>C
Links:
dbSNP: rs764458531
NCBI 1000 Genomes Browser:
rs764458531
Molecular consequence:
  • NM_001077490.3:c.*797T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016592.5:c.*842T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000516.7:c.936T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001077488.5:c.939T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001077489.4:c.891T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001309840.2:c.759T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001309861.2:c.759T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_080425.4:c.2865T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_080426.4:c.894T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
McCune-Albright syndrome (MAS)
Synonyms:
Albright's Syndrome; Albright's disease; McCune-Albright syndrome, somatic, mosaic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018919; MedGen: C0242292; Orphanet: 562; OMIM: 174800
Name:
Pseudohypoparathyroidism type 1C (PHP1C)
Synonyms:
PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP IC
Identifiers:
MONDO: MONDO:0012911; MedGen: C2932716; Orphanet: 79444; OMIM: 612462
Name:
Pseudohypoparathyroidism type 1B (PHP1B)
Synonyms:
PHP IB; Pseudohypoparathyroidism Type IB
Identifiers:
MONDO: MONDO:0011301; MedGen: C1864100; Orphanet: 94089; OMIM: 603233
Name:
Pseudopseudohypoparathyroidism (PPHP)
Synonyms:
Albright hereditary osteodystrophy without multiple hormone resistance
Identifiers:
MONDO: MONDO:0012912; MedGen: C0033835; Orphanet: 79445; OMIM: 612463
Name:
Progressive osseous heteroplasia (POH)
Synonyms:
ECTOPIC OSSIFICATION, FAMILIAL; Osseus Heteroplasia, Progressive
Identifiers:
MONDO: MONDO:0008153; MedGen: C0334041; Orphanet: 2762; OMIM: 166350; Human Phenotype Ontology: HP:0025027
Name:
Pituitary adenoma 3, multiple types
Synonyms:
PITUITARY ADENOMA 3, ACTH-SECRETING, SOMATIC; PITUITARY ADENOMA 3, GROWTH HORMONE-SECRETING, SOMATIC
Identifiers:
MONDO: MONDO:0054665; MedGen: C4540135; OMIM: 617686
Name:
ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1)
Synonyms:
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA; ACTH-independent macronodular adrenal hyperplasia, somatic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0020735; MedGen: C1857451; OMIM: 219080
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
SCV002800269Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jul 20, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002800269.1

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

Last Updated: Nov 3, 2024