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:
- Nov 24, 2019
- Most recent Submission:
- Nov 24, 2019
- Last evaluated:
- Nov 21, 2019
- Accession:
- VCV000694584.1
- Variation ID:
- 694584
- Description:
- single nucleotide variant
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NM_001367801.1(CFAP70):c.1723-1G>T
- Allele ID
- 682657
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 10q22.2
- Genomic location
- 10: 73297174 (GRCh38) GRCh38 UCSC
- 10: 75056932 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001367801.1:c.1723-1G>T MANE Select splice acceptor NM_001350933.2:c.1513-1G>T splice acceptor NM_001350934.2:c.1147-1G>T splice acceptor NC_000010.11:g.73297174C>A NC_000010.10:g.75056932C>A - Protein change
- -
- Other names
- NM_145170.3:c.1723-1G>T
- IVS15AS, G-T, -1
- Canonical SPDI
- NC_000010.11:73297173:C:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- OMIM: 618661.0001
- dbSNP: rs1589391313
- 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 | Nov 21, 2019 | RCV000856602.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Nov 21, 2019)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000999136.1
First in ClinVar: Nov 24, 2019 Last updated: Nov 24, 2019 |
Comment on evidence:
In an infertile man with spermatogenic failure due to multiple morphologic abnormalities of the flagella (SPGF41; 618670), Beurois et al. (2019) identified homozygosity for a … (more)
In an infertile man with spermatogenic failure due to multiple morphologic abnormalities of the flagella (SPGF41; 618670), Beurois et al. (2019) identified homozygosity for a splicing mutation (c.1723-1G-T, NM_145170.3) in intron 15 of the CFAP70 gene, altering a consensus splice acceptor site of exon 16. Immunofluorescence analysis of patient sperm cells showed total absence of CFAP70. Staining for SPAG6 (605730), a marker of the axoneme central pair complex (CPC), in patient sperm showed complete absence from flagella, suggesting defects in the CPC structure. Similarly, DNAI2 (605483), a marker of the outer dynein arms (ODA), was totally absent or dramatically reduced in most analyzed sperm, regardless of sperm morphology. (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 |
|---|---|---|---|---|
| CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report. | Beurois J | Human reproduction (Oxford, England) | 2019 | PMID: 31621862 |
Text-mined citations for rs1589391313...
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 Jun 10, 2023