CCDC102A

coiled-coil domain containing 102A

Basic information

Region (hg38): 16:57512181-57536571

Links

ENSG00000135736 ∙ NCBI:92922 ∙ ∙ HGNC:28097 ∙ Uniprot:Q96A19 ∙ 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 CCDC102A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC102A 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			59			59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	59	0	0

Variants in CCDC102A

This is a list of pathogenic ClinVar variants found in the CCDC102A region.

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

Position	Type	Phenotype	Significance	ClinVar
16-57512749-C-T		not specified	Uncertain significance (Dec 11, 2023)
16-57512797-C-T		not specified	Uncertain significance (Apr 11, 2023)
16-57512806-C-T		not specified	Uncertain significance (Nov 17, 2022)
16-57512814-A-G		not specified	Uncertain significance (Aug 14, 2023)
16-57512827-G-A		not specified	Uncertain significance (Aug 02, 2021)
16-57512845-G-C		not specified	Uncertain significance (Sep 27, 2021)
16-57515353-T-G		not specified	Uncertain significance (Sep 29, 2022)
16-57515396-C-G		not specified	Uncertain significance (Apr 19, 2023)
16-57515408-G-A		not specified	Uncertain significance (Feb 12, 2025)
16-57515420-G-A		not specified	Uncertain significance (May 10, 2024)
16-57516295-C-T		not specified	Uncertain significance (Jun 19, 2024)
16-57516394-C-T		not specified	Uncertain significance (Dec 02, 2024)
16-57516414-T-A		not specified	Uncertain significance (Dec 02, 2022)
16-57516462-T-G		not specified	Uncertain significance (Aug 17, 2021)
16-57518080-G-C		not specified	Uncertain significance (Aug 19, 2024)
16-57518080-G-T		not specified	Uncertain significance (May 14, 2024)
16-57518085-G-A		not specified	Uncertain significance (Dec 14, 2022)
16-57518087-G-A		not specified	Uncertain significance (Jul 17, 2024)
16-57518087-G-T		not specified	Uncertain significance (Jan 27, 2022)
16-57518088-C-T		not specified	Uncertain significance (Dec 07, 2021)
16-57518102-C-T		not specified	Uncertain significance (Feb 11, 2022)
16-57518121-C-T		not specified	Uncertain significance (Jan 02, 2024)
16-57518127-C-T		not specified	Uncertain significance (Oct 06, 2021)
16-57518135-C-T		not specified	Uncertain significance (Feb 07, 2025)
16-57518169-C-T		not specified	Uncertain significance (Jan 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC102A	protein_coding	protein_coding	ENST00000258214	8	24422

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000682	0.980	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.754	253	289	0.875	0.0000214	3436
Missense in Polyphen		120	140.91	0.85163		1410
Synonymous	0.925	106	119	0.892	0.00000809	1115
Loss of Function	2.08	10	20.0	0.499	9.36e-7	255

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000874	0.0000874
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000117	0.000114
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.155
• hipred: N
• hipred_score: 0.319
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.631

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ccdc102a

Gene ontology

• Cellular component: myosin complex
• Molecular function: motor activity