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NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jun 7, 2020)
Last evaluated:
Jun 7, 2020
Accession:
VCV000684768.2
Variation ID:
684768
Description:
single nucleotide variant
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NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)

Allele ID
672325
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p12
Genomic location
8: 30837061 (GRCh38) GRCh38 UCSC
8: 30694577 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.30837061C>T
NC_000008.10:g.30694577C>T
NM_001350162.2:c.9223G>A MANE Select NP_001337091.1:p.Gly3075Arg missense
NG_053141.1:g.80952G>A
Protein change
G3075R
Other names
-
Canonical SPDI
NC_000008.11:30837060:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00086
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00154
Trans-Omics for Precision Medicine (TOPMed) 0.00141
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD), exomes 0.00154
Exome Aggregation Consortium (ExAC) 0.00142
Links
dbSNP: rs150606321
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jul 14, 2017 RCV000971550.1
Uncertain significance 1 criteria provided, single submitter Jun 7, 2020 RCV001261893.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TEX15 - - GRCh38
GRCh37
43 105

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 14, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001119205.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Jun 07, 2020)
criteria provided, single submitter
Method: research
Non-obstructive azoospermia
Allele origin: unknown
Institute of Reproductive Genetics, University of M√ľnster
Accession: SCV001439223.1
Submitted: (Jun 07, 2020)
Evidence details
Publications
PubMed (1)

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
Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes. Araujo TF Andrology 2020 PMID: 31479588

Text-mined citations for rs150606321...

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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 Jan 09, 2021