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NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000195080.5
Variation ID:
195080
Description:
single nucleotide variant
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NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)

Allele ID
192241
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q23.3
Genomic location
17: 63918365 (GRCh38) GRCh38 UCSC
17: 61995725 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.61995725A>T
NC_000017.11:g.63918365A>T
NM_000515.5:c.152T>A MANE Select NP_000506.2:p.Phe51Tyr missense
... more HGVS
Protein change
F51Y
Other names
-
Canonical SPDI
NC_000017.11:63918364:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00519 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00114
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00507
Trans-Omics for Precision Medicine (TOPMed) 0.00397
The Genome Aggregation Database (gnomAD) 0.00398
Exome Aggregation Consortium (ExAC) 0.00120
1000 Genomes Project 0.00519
Links
ClinGen: CA201550
dbSNP: rs61735357
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Oct 31, 2014 RCV000175615.1
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000872441.2
Benign 1 criteria provided, single submitter May 28, 2019 RCV000990051.1
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV001122917.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GH-LCR - - - GRCh38 - 817
GH1 - - GRCh38
GRCh37
10 105

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 31, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000227135.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant isolated somatotropin deficiency
Allele origin: unknown
Mendelics
Accession: SCV001140815.1
Submitted: (Oct 22, 2019)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001014253.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Growth hormone deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001281695.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)

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
Complex signatures of locus-specific selective pressures and gene conversion on Human Growth Hormone/Chorionic Somatomammotropin genes. Sedman L Human mutation 2008 PMID: 18473352
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GH1 - - - -

Text-mined citations for rs61735357...

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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 Jun 14, 2021