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NM_015404.4(WHRN):c.2237-10C>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000193718.4
Variation ID:
193718
Description:
single nucleotide variant
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NM_015404.4(WHRN):c.2237-10C>G

Allele ID
190881
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q32
Genomic location
9: 114404087 (GRCh38) GRCh38 UCSC
9: 117166367 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.114404087G>C
NC_000009.11:g.117166367G>C
NM_015404.4:c.2237-10C>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:114404086:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00027
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
The Genome Aggregation Database (gnomAD) 0.00045
Trans-Omics for Precision Medicine (TOPMed) 0.00035
Links
ClinGen: CA239327
dbSNP: rs200131193
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001167310.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001167311.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Nov 27, 2020 RCV000173869.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WHRN - - GRCh38
GRCh37
447 487

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 19, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000225034.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Mar 13, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000981836.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001697371.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2D
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001329790.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 31
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001329791.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=WHRN - - - -

Text-mined citations for rs200131193...

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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