FAM228A

family with sequence similarity 228 member A

Basic information

Region (hg38): 2:24175053-24200849

Previous symbols: [ "C2orf84" ]

Links

ENSG00000186453 ∙ NCBI:653140 ∙ ∙ HGNC:34418 ∙ Uniprot:Q86W67 ∙ 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 FAM228A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM228A 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			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	0

Variants in FAM228A

This is a list of pathogenic ClinVar variants found in the FAM228A region.

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

Position	Type	Phenotype	Significance	ClinVar
2-24175550-C-A		not specified	Uncertain significance (Apr 07, 2022)
2-24175557-C-T		not specified	Uncertain significance (Jun 23, 2023)
2-24175563-C-G		not specified	Uncertain significance (Sep 29, 2022)
2-24177869-A-G		not specified	Uncertain significance (Nov 11, 2024)
2-24183309-C-T		not specified	Uncertain significance (Dec 15, 2023)
2-24183499-A-T		not specified	Uncertain significance (Mar 30, 2024)
2-24183530-G-C		not specified	Uncertain significance (Mar 20, 2023)
2-24183565-C-A		not specified	Uncertain significance (Dec 02, 2022)
2-24183567-C-T		not specified	Uncertain significance (Dec 05, 2022)
2-24183608-G-T		not specified	Uncertain significance (Oct 02, 2023)
2-24190522-A-G		not specified	Likely benign (Jun 30, 2023)
2-24190563-G-T		not specified	Uncertain significance (Aug 12, 2021)
2-24190584-G-T		not specified	Uncertain significance (Dec 01, 2022)
2-24190604-C-A		not specified	Uncertain significance (Dec 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM228A	protein_coding	protein_coding	ENST00000295150	5	25781

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0163	0.894	124786	0	8	124794	0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.142	113	109	1.04	0.00000545	1352
Missense in Polyphen		27	23.243	1.1616		344
Synonymous	0.937	34	41.7	0.815	0.00000247	371
Loss of Function	1.43	4	8.48	0.472	4.55e-7	102

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000590	0.0000590
Ashkenazi Jewish	0.000116	0.0000993
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000355	0.0000353
Middle Eastern	0.0000556	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.82

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.424

Essentials

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

Mouse Genome Informatics

• Gene name: Fam228a