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NM_000515.5(GH1):c.363T>A (p.Ser121Arg)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000281268.3
Variation ID:
281268
Description:
single nucleotide variant
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NM_000515.5(GH1):c.363T>A (p.Ser121Arg)

Allele ID
265505
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q23.3
Genomic location
17: 63917853 (GRCh38) GRCh38 UCSC
17: 61995213 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.61995213A>T
NC_000017.11:g.63917853A>T
NM_000515.5:c.363T>A MANE Select NP_000506.2:p.Ser121Arg missense
... more HGVS
Protein change
S121R, S106R, S81R
Other names
-
Canonical SPDI
NC_000017.11:63917852:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00300 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00261
The Genome Aggregation Database (gnomAD) 0.00300
Trans-Omics for Precision Medicine (TOPMed) 0.00289
1000 Genomes Project 0.00300
Links
ClinGen: CA8708210
dbSNP: rs137882374
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 Jun 17, 2015 RCV000336011.1
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV000870513.2
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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 - 872
GH1 - - GRCh38
GRCh37
10 113

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 17, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000331965.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001012015.2
Submitted: (Jan 29, 2020)
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.

Text-mined citations for rs137882374...

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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 Oct 30, 2020