SPATA31C2

SPATA31 subfamily C member 2

Basic information

Region (hg38): 9:88129305-88138475

Previous symbols: [ "FAM75C2" ]

Links

ENSG00000177910 ∙ NCBI:645961 ∙ ∙ HGNC:24508 ∙ Uniprot:B4DYI2 ∙ 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 SPATA31C2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPATA31C2 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	14	0	0

Variants in SPATA31C2

This is a list of pathogenic ClinVar variants found in the SPATA31C2 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-88129808-T-C		not specified	Uncertain significance (Aug 10, 2021)
9-88130176-T-A		not specified	Uncertain significance (Jul 13, 2021)
9-88130449-T-A		not specified	Uncertain significance (Oct 27, 2021)
9-88130656-G-A		not specified	Uncertain significance (Aug 02, 2021)
9-88130951-C-T		not specified	Uncertain significance (Jun 22, 2021)
9-88131252-A-C		not specified	Uncertain significance (Jun 21, 2021)
9-88131409-G-T		not specified	Uncertain significance (Oct 12, 2021)
9-88131638-G-C		not specified	Uncertain significance (Oct 20, 2021)
9-88131793-C-A		not specified	Uncertain significance (Sep 15, 2021)
9-88131983-C-T		not specified	Uncertain significance (Aug 12, 2021)
9-88132357-G-A		not specified	Uncertain significance (Aug 18, 2021)
9-88132969-T-A		not specified	Uncertain significance (Jul 09, 2021)
9-88133011-G-A		not specified	Uncertain significance (Aug 12, 2021)
9-88134805-C-A		not specified	Uncertain significance (Sep 27, 2021)

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