SPATA31D3

SPATA31 subfamily D member 3

Basic information

Region (hg38): 9:81943500-81950093

Previous symbols: [ "FAM75D3" ]

Links

ENSG00000186788 ∙ NCBI:389762 ∙ ∙ HGNC:38603 ∙ Uniprot:P0C874 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SPATA31D3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPATA31D3 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			44	7		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	7	0

Variants in SPATA31D3

This is a list of pathogenic ClinVar variants found in the SPATA31D3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-81945194-A-C		not specified	Uncertain significance (Mar 31, 2022)
9-81945214-T-C		not specified	Uncertain significance (May 03, 2023)
9-81945220-C-A		not specified	Uncertain significance (Jan 24, 2024)
9-81945229-A-G		not specified	Uncertain significance (Oct 30, 2023)
9-81947336-C-T		not specified	Uncertain significance (Nov 18, 2022)
9-81947355-G-A		not specified	Uncertain significance (Dec 23, 2024)
9-81947384-C-T		not specified	Uncertain significance (Nov 09, 2024)
9-81947391-A-C		not specified	Likely benign (Sep 27, 2024)
9-81947394-A-G		not specified	Likely benign (Jan 20, 2025)
9-81947395-C-G		not specified	Uncertain significance (Dec 02, 2024)
9-81947432-G-A		not specified	Uncertain significance (Nov 18, 2022)
9-81947433-G-A		not specified	Uncertain significance (Jun 03, 2022)
9-81947433-G-T		not specified	Uncertain significance (Nov 18, 2022)
9-81947435-C-G		not specified	Uncertain significance (Jan 21, 2025)
9-81947458-G-T		not specified	Uncertain significance (Jun 26, 2024)
9-81947489-G-A		not specified	Uncertain significance (Dec 22, 2023)
9-81947502-C-T		not specified	Uncertain significance (Dec 09, 2024)
9-81947516-G-A		not specified	Likely benign (Jan 21, 2025)
9-81947559-A-T		not specified	Uncertain significance (Jun 01, 2023)
9-81947568-G-A		not specified	Likely benign (Jan 22, 2025)
9-81947580-C-G		not specified	Uncertain significance (Aug 28, 2024)
9-81947583-C-T		not specified	Uncertain significance (May 27, 2022)
9-81947593-C-A		not specified	Uncertain significance (Aug 04, 2024)
9-81947593-C-G		not specified	Uncertain significance (Feb 21, 2024)
9-81947618-T-A		not specified	Uncertain significance (Nov 18, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in spermatogenesis. {ECO:0000250}.

Gene ontology

• Biological process: spermatogenesis;cell differentiation
• Cellular component: integral component of membrane