FAM220A

family with sequence similarity 220 member A

Basic information

Region (hg38): 7:6329410-6348981

Previous symbols: [ "C7orf70" ]

Links

ENSG00000178397 ∙ NCBI:84792 ∙ OMIM:616628 ∙ HGNC:22422 ∙ Uniprot:Q7Z4H9 ∙ 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 FAM220A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM220A 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			6	2		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	2	0

Variants in FAM220A

This is a list of pathogenic ClinVar variants found in the FAM220A region.

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

Position	Type	Phenotype	Significance	ClinVar
7-6330412-T-C		not specified	Uncertain significance (Jun 11, 2021)
7-6330472-T-C		not specified	Uncertain significance (Jul 13, 2021)
7-6330559-T-C		not specified	Likely benign (Jun 11, 2021)
7-6330598-G-C		not specified	Uncertain significance (Aug 02, 2021)
7-6330670-G-A		not specified	Likely benign (Oct 13, 2021)
7-6330707-G-A		not specified	Uncertain significance (Nov 09, 2021)
7-6330901-T-C		not specified	Uncertain significance (Jun 22, 2021)
7-6330935-G-A		not specified	Uncertain significance (Aug 10, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM220A	protein_coding	protein_coding	ENST00000313324	1	19573

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.35	199	152	1.31	0.00000870	1641
Missense in Polyphen		68	51.154	1.3293		652
Synonymous	-0.931	74	64.5	1.15	0.00000400	554
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May negatively regulate STAT3. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.89
• rvis_percentile_EVS: 89.14

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam220a

Gene ontology

• Cellular component: nucleus