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NM_000451.3(SHOX):c.864G>A (p.Glu288=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Jul 6, 2017
Accession:
VCV000282252.1
Variation ID:
282252
Description:
single nucleotide variant
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NM_000451.3(SHOX):c.864G>A (p.Glu288=)

Allele ID
266489
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.33
Yp11.2
Genomic location
X: 644621 (GRCh38) GRCh38 UCSC
Y: 644621 (GRCh38) GRCh38 UCSC
X: 605356 (GRCh37) GRCh37 UCSC
Y: 555356 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.605356G>A
NC_000023.11:g.644621G>A
NC_000024.10:g.644621G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000024.10:644620:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00159 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00010
1000 Genomes Project 0.00159
The Genome Aggregation Database (gnomAD), exomes 0.00016
The Genome Aggregation Database (gnomAD) 0.00220
Trans-Omics for Precision Medicine (TOPMed) 0.00195
Links
ClinGen: CA10604121
dbSNP: rs781656634
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jul 6, 2017 RCV000366719.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SHOX
Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
94 261

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000615261.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(Jan 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000333611.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SHOX - - - -

Text-mined citations for rs781656634...

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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 Mar 28, 2021