SPACA1
Basic information
Region (hg38): 6:88047840-88066838
Links
Phenotypes
GenCC
Source:
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Spermatogenic failure 85 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Genitourinary | 34172998 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPACA1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 20 | 22 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 20 | 2 | 0 |
Variants in SPACA1
This is a list of pathogenic ClinVar variants found in the SPACA1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-88047958-G-A | Spermatogenic failure 85 | Pathogenic (Aug 25, 2023) | ||
6-88048003-C-T | not specified | Uncertain significance (Nov 13, 2023) | ||
6-88048065-A-C | not specified | Uncertain significance (Feb 16, 2023) | ||
6-88048087-A-G | not specified | Uncertain significance (Oct 26, 2021) | ||
6-88053955-G-A | not specified | Uncertain significance (May 02, 2024) | ||
6-88053973-T-C | not specified | Uncertain significance (Jan 29, 2024) | ||
6-88053981-G-A | not specified | Uncertain significance (Jan 17, 2024) | ||
6-88053984-A-C | not specified | Uncertain significance (Aug 08, 2023) | ||
6-88053990-A-G | not specified | Uncertain significance (Mar 06, 2023) | ||
6-88058748-G-C | not specified | Uncertain significance (Dec 14, 2023) | ||
6-88058791-A-C | not specified | Uncertain significance (Nov 09, 2023) | ||
6-88058796-A-G | not specified | Uncertain significance (Jan 03, 2022) | ||
6-88059489-G-A | not specified | Uncertain significance (Nov 12, 2021) | ||
6-88059505-G-A | not specified | Likely benign (Aug 01, 2022) | ||
6-88059529-A-G | not specified | Uncertain significance (Feb 28, 2024) | ||
6-88059535-T-A | not specified | Uncertain significance (Jul 12, 2023) | ||
6-88064108-T-C | not specified | Uncertain significance (May 18, 2022) | ||
6-88064120-G-A | not specified | Uncertain significance (Jun 29, 2023) | ||
6-88064171-T-C | not specified | Uncertain significance (Jun 22, 2024) | ||
6-88064174-T-C | not specified | Uncertain significance (Mar 18, 2024) | ||
6-88064177-G-A | not specified | Uncertain significance (Apr 19, 2023) | ||
6-88064198-T-G | not specified | Uncertain significance (Apr 09, 2024) | ||
6-88066194-G-T | not specified | Uncertain significance (May 10, 2022) | ||
6-88066207-G-A | not specified | Uncertain significance (Jun 03, 2022) | ||
6-88066243-A-C | not specified | Uncertain significance (Jul 27, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SPACA1 | protein_coding | protein_coding | ENST00000237201 | 7 | 19044 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0227 | 0.964 | 125722 | 0 | 4 | 125726 | 0.0000159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.676 | 149 | 174 | 0.856 | 0.0000102 | 1900 |
Missense in Polyphen | 45 | 59.788 | 0.75265 | 751 | ||
Synonymous | 1.11 | 60 | 72.0 | 0.834 | 0.00000525 | 571 |
Loss of Function | 2.16 | 5 | 13.6 | 0.368 | 5.74e-7 | 172 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000624 | 0.0000615 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000659 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00000945 | 0.00000879 |
Middle Eastern | 0.0000659 | 0.0000544 |
South Asian | 0.0000342 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in acrosome expansion and establishment of normal sperm morphology during spermatogenesis (By similarity). Important for male fertility (PubMed:11870081). {ECO:0000250|UniProtKB:Q9DA48, ECO:0000269|PubMed:11870081}.;
Recessive Scores
- pRec
- 0.103
Intolerance Scores
- loftool
- 0.292
- rvis_EVS
- -0.29
- rvis_percentile_EVS
- 32.94
Haploinsufficiency Scores
- pHI
- 0.107
- hipred
- N
- hipred_score
- 0.200
- ghis
- 0.390
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.177
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Spaca1
- Phenotype
- cellular phenotype; reproductive system phenotype;
Gene ontology
- Biological process
- acrosome assembly
- Cellular component
- inner acrosomal membrane;acrosomal membrane;integral component of membrane
- Molecular function