FSIP2
Basic information
Region (hg38): 2:185738804-185833290
Links
Phenotypes
GenCC
Source:
- non-syndromic male infertility due to sperm motility disorder (Supportive), mode of inheritance: AR
- spermatogenic failure 34 (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Spermatogenic failure 34 | 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 | 30137358 |
ClinVar
This is a list of variants' phenotypes submitted to
- Abnormal sperm morphology;Reduced sperm motility;Oligospermia (1 variants)
- Spermatogenic failure 34 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSIP2 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 | 23 | 24 | ||||
missense | 534 | 49 | 583 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 6 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 6 | |||||
Total | 2 | 3 | 541 | 73 | 1 |
Variants in FSIP2
This is a list of pathogenic ClinVar variants found in the FSIP2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-185738832-A-C | not specified | Uncertain significance (Mar 01, 2023) | ||
2-185738835-G-A | not specified | Uncertain significance (Jun 28, 2022) | ||
2-185738851-A-G | not specified | Uncertain significance (Feb 27, 2023) | ||
2-185738857-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
2-185738863-G-T | not specified | Uncertain significance (Mar 02, 2023) | ||
2-185738884-C-T | not specified | Uncertain significance (Oct 24, 2023) | ||
2-185738891-G-A | FSIP2-related disorder | Likely benign (Apr 11, 2019) | ||
2-185738911-G-A | not specified | Uncertain significance (May 18, 2023) | ||
2-185738980-A-G | not specified | Uncertain significance (Oct 30, 2023) | ||
2-185738985-T-C | not specified | Uncertain significance (Feb 14, 2023) | ||
2-185738993-C-T | FSIP2-related disorder | Likely benign (Apr 26, 2019) | ||
2-185739377-G-A | not specified | Uncertain significance (Nov 07, 2022) | ||
2-185739417-G-T | Likely benign (Dec 01, 2022) | |||
2-185739439-G-A | not specified | Likely benign (Jun 10, 2024) | ||
2-185743179-G-A | Uncertain significance (Mar 01, 2021) | |||
2-185743184-T-C | FSIP2-related disorder | Likely benign (Apr 11, 2019) | ||
2-185743216-A-T | Likely benign (Nov 01, 2024) | |||
2-185744351-G-A | FSIP2-related disorder | Likely benign (Jan 02, 2020) | ||
2-185745523-A-T | not specified | Uncertain significance (Jul 05, 2024) | ||
2-185745528-A-C | not specified | Uncertain significance (Jul 27, 2022) | ||
2-185745537-A-G | not specified | Uncertain significance (Feb 27, 2024) | ||
2-185745553-G-A | not specified | Uncertain significance (Jan 23, 2024) | ||
2-185746709-C-T | not specified | Uncertain significance (May 14, 2024) | ||
2-185746758-G-A | Uncertain significance (-) | |||
2-185746761-A-G | not specified | Uncertain significance (Feb 11, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FSIP2 | protein_coding | protein_coding | ENST00000343098 | 23 | 94663 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.63e-28 | 1.00 | 123370 | 0 | 10 | 123380 | 0.0000405 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 3.31 | 2489 | 3.00e+3 | 0.830 | 0.000142 | 46142 |
Missense in Polyphen | 574 | 746.05 | 0.76939 | 12660 | ||
Synonymous | 3.77 | 930 | 1.09e+3 | 0.854 | 0.0000533 | 12966 |
Loss of Function | 7.35 | 81 | 190 | 0.425 | 0.00000924 | 3457 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000974 | 0.0000970 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000608 | 0.0000557 |
Finnish | 0.0000472 | 0.0000464 |
European (Non-Finnish) | 0.0000472 | 0.0000452 |
Middle Eastern | 0.0000608 | 0.0000557 |
South Asian | 0.0000340 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
Recessive Scores
- pRec
- 0.0762
Haploinsufficiency Scores
- pHI
- 0.0521
- hipred
- N
- hipred_score
- 0.406
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.501
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Fsip2
- Phenotype