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NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 21, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000167871.6
Variation ID:
167871
Description:
single nucleotide variant
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NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)

Allele ID
178171
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq26.3
Genomic location
X: 137030751 (GRCh38) GRCh38 UCSC
X: 136112910 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q96P66:p.Glu308Asp
NC_000023.10:g.136112910C>G
NM_054021.1:c.924G>C NP_473362.1:p.Glu308Asp missense
... more HGVS
Protein change
E308D
Other names
GPR101, GLU308ASP (rs73637412)
Canonical SPDI
NC_000023.11:137030750:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00362
Links
ClinGen: CA180516
UniProtKB: Q96P66#VAR_072691
OMIM: 300393.0001
dbSNP: rs73637412
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, single submitter May 28, 2019 RCV000154187.11
Likely benign 3 criteria provided, single submitter Dec 31, 2019 RCV000887712.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GPR101 - - GRCh38
GRCh37
17 196

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Pituitary adenoma, growth hormone-secreting, 2
Allele origin: unknown
Mendelics
Accession: SCV001142026.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001031287.2
Submitted: (Jan 29, 2020)
Evidence details
Pathogenic
(Mar 26, 2015)
no assertion criteria provided
Method: literature only
PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING
Allele origin: unknown
OMIM
Accession: SCV000203835.7
Submitted: (Jun 10, 2016)
Evidence details
Publications
PubMed (4)
Uncertain significance
(Jun 16, 2017)
no assertion criteria provided
Method: literature only
Pituitary adenoma, growth hormone-secreting, 2
Allele origin: germline
GeneReviews
Accession: SCV000731205.1
Submitted: (Jun 16, 2017)
Evidence details
Publications
PubMed (6)
BookShelf: NBK476671
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001798856.1
Submitted: (Aug 19, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001964749.1
Submitted: (Sep 21, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
X-Linked Acrogigantism Iacovazzo D - 2018 PMID: 29389097
Genetic and clinical characteristics of Japanese patients with sporadic somatotropinoma. Matsumoto R Endocrine journal 2016 PMID: 27498687
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. Tšuiko O Human reproduction (Oxford, England) 2016 PMID: 27301361
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Iacovazzo D Acta neuropathologica communications 2016 PMID: 27245663
Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study. Ferraù F Endocrine 2016 PMID: 26815903
Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas. Lecoq AL European journal of endocrinology 2016 PMID: 26792934
Gigantism, acromegaly, and GPR101 mutations. Roohi J The New England journal of medicine 2015 PMID: 25806921
Gigantism, acromegaly, and GPR101 mutations. Daly AF The New England journal of medicine 2015 PMID: 25806919
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. Trivellin G The New England journal of medicine 2014 PMID: 25470569

Text-mined citations for rs73637412...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 20, 2021