FAM221A

family with sequence similarity 221 member A

Basic information

Region (hg38): 7:23680130-23703249

Previous symbols: [ "C7orf46" ]

Links

ENSG00000188732 ∙ NCBI:340277 ∙ ∙ HGNC:27977 ∙ Uniprot:A4D161 ∙ 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 FAM221A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM221A 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			25			25
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	1	0

Variants in FAM221A

This is a list of pathogenic ClinVar variants found in the FAM221A region.

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

Position	Type	Phenotype	Significance	ClinVar
7-23680268-A-G		not specified	Uncertain significance (Sep 22, 2023)
7-23680274-A-C		not specified	Uncertain significance (Jun 16, 2023)
7-23684506-G-A		not specified	Uncertain significance (Nov 10, 2022)
7-23684542-G-A		not specified	Uncertain significance (Aug 16, 2021)
7-23684573-C-G		not specified	Uncertain significance (Oct 05, 2021)
7-23684573-C-T		not specified	Uncertain significance (Dec 17, 2024)
7-23684578-C-T		not specified	Uncertain significance (Jun 17, 2024)
7-23684614-C-T		not specified	Uncertain significance (Dec 01, 2022)
7-23684618-C-T		not specified	Uncertain significance (May 23, 2024)
7-23689298-C-T		not specified	Uncertain significance (Dec 09, 2023)
7-23689316-C-T		not specified	Uncertain significance (Jan 07, 2022)
7-23689336-G-C		not specified	Uncertain significance (Feb 06, 2023)
7-23689342-G-A		not specified	Uncertain significance (Mar 04, 2024)
7-23689367-A-G		not specified	Uncertain significance (Jul 09, 2021)
7-23689418-C-T		not specified	Uncertain significance (Mar 22, 2023)
7-23691482-A-G		not specified	Uncertain significance (Jan 22, 2024)
7-23691504-T-C		not specified	Uncertain significance (Mar 11, 2022)
7-23691537-G-C		not specified	Uncertain significance (Jan 26, 2022)
7-23691567-G-T		not specified	Uncertain significance (Jan 02, 2025)
7-23691589-TG-T			Likely benign (Mar 01, 2023)
7-23691590-G-A		not specified	Uncertain significance (Sep 20, 2023)
7-23698239-A-T		not specified	Uncertain significance (Aug 27, 2024)
7-23698252-A-G		not specified	Uncertain significance (Feb 23, 2023)
7-23698288-C-T		not specified	Uncertain significance (Feb 27, 2024)
7-23700830-G-A		not specified	Uncertain significance (Apr 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM221A	protein_coding	protein_coding	ENST00000344962	7	23120

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.70e-12	0.0158	124754	3	991	125748	0.00396

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.340	147	159	0.924	0.00000800	1917
Missense in Polyphen		58	58.01	0.99982		670
Synonymous	0.249	57	59.4	0.959	0.00000301	561
Loss of Function	-0.441	17	15.1	1.12	7.37e-7	195

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00414	0.00414
Ashkenazi Jewish	0.00149	0.00149
East Asian	0.0000544	0.0000544
Finnish	0.000924	0.000832
European (Non-Finnish)	0.00651	0.00652
Middle Eastern	0.0000544	0.0000544
South Asian	0.00256	0.00255
Other	0.00441	0.00441

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.97
• rvis_percentile_EVS: 90.34

Haploinsufficiency Scores

• pHI: 0.423
• hipred: N
• hipred_score: 0.216
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam221a