ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Jul 5, 2020
- Most recent Submission:
- Jul 5, 2020
- Last evaluated:
- Apr 1, 2014
- Accession:
- VCV000135657.2
- Variation ID:
- 135657
- Description:
- single nucleotide variant
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NM_005640.3(TAF4B):c.1831C>T (p.Arg611Ter)
- Allele ID
- 139375
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 18q11.2
- Genomic location
- 18: 26293530 (GRCh38) GRCh38 UCSC
- 18: 23873494 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_005640.3:c.1831C>T MANE Select NP_005631.1:p.Arg611Ter nonsense NM_001293725.2:c.1846C>T NP_001280654.1:p.Arg616Ter nonsense NR_121653.2:n.2320C>T NC_000018.10:g.26293530C>T NC_000018.9:g.23873494C>T NG_034162.1:g.71648C>T - Protein change
- R611*, R616*
- Other names
- -
- Canonical SPDI
- NC_000018.10:26293529:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA163111
- OMIM: 601689.0001
- dbSNP: rs587777427
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Apr 1, 2014 | RCV000122735.3 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Apr 01, 2014)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000165989.2
First in ClinVar: Jun 15, 2014 Last updated: Jul 05, 2020 |
Comment on evidence:
In 4 infertile brothers from a highly consanguineous Turkish family with spermatogenic failure (SPGF13; 615841), Ayhan et al. (2014) identified homozygosity for a c.1831C-T transition … (more)
In 4 infertile brothers from a highly consanguineous Turkish family with spermatogenic failure (SPGF13; 615841), Ayhan et al. (2014) identified homozygosity for a c.1831C-T transition in exon 9 of the TAF4B gene, causing an arg611-to-ter (R611X) substitution. The mutation was predicted to truncate 252 residues and to result in a protein lacking the histone-fold domain as well as the TAF12 (600773)-interaction domain. An unaffected brother with 9 children was heterozygous for the mutation, which was not found in 120 population controls. (less)
|
Functional evidence
Help| 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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. | Ayhan Ö | Journal of medical genetics | 2014 | PMID: 24431330 |
Text-mined citations for rs587777427...
HelpThese 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 Apr 25, 2022