FAM217A

family with sequence similarity 217 member A

Basic information

Region (hg38): 6:4049434-4087344

Previous symbols: [ "C6orf146" ]

Links

ENSG00000145975 ∙ NCBI:222826 ∙ ∙ HGNC:21362 ∙ Uniprot:Q8IXS0 ∙ 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 FAM217A gene.

• not_specified (68 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM217A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173563.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			60	10		70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	12	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM217A	protein_coding	protein_coding	ENST00000274673	6	37911

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.82e-9	0.608	125561	1	182	125744	0.000728

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.00735	254	254	0.999	0.0000120	3344
Missense in Polyphen		50	54.564	0.91636		826
Synonymous	1.32	77	93.2	0.826	0.00000458	952
Loss of Function	1.22	16	22.2	0.720	0.00000122	273

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00350	0.00330
Ashkenazi Jewish	0.000893	0.000893
East Asian	0.000442	0.000435
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000627	0.000616
Middle Eastern	0.000442	0.000435
South Asian	0.000663	0.000653
Other	0.000978	0.000978

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.4
• rvis_percentile_EVS: 98.51

Haploinsufficiency Scores

• pHI: 0.0753
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Fam217a
• Phenotype: normal phenotype