FAM217A

family with sequence similarity 217 member A

Basic information

Region (hg38): 6:4049433-4087344

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.

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.

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				2		2
missense			36	7		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	9	0

Variants in FAM217A

This is a list of pathogenic ClinVar variants found in the FAM217A region.

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

Position	Type	Phenotype	Significance	ClinVar
6-4051953-T-G			Likely benign (Jul 01, 2022)
6-4052069-C-T		not specified	Uncertain significance (Oct 06, 2022)
6-4052813-A-G			Benign (Dec 31, 2019)
6-4056328-A-T			Uncertain significance (Dec 03, 2020)
6-4058741-G-T		not specified	Uncertain significance (Feb 28, 2024)
6-4068716-A-G			Likely benign (Mar 01, 2023)
6-4068727-T-C		not specified	Likely benign (Feb 02, 2024)
6-4068729-C-G		not specified	Uncertain significance (Feb 27, 2023)
6-4068733-G-C		not specified	Uncertain significance (Jan 24, 2024)
6-4068748-G-A		not specified	Uncertain significance (Sep 17, 2021)
6-4068770-T-C		not specified	Uncertain significance (Jun 16, 2023)
6-4068802-C-T		not specified	Likely benign (Aug 30, 2022)
6-4068826-A-C		not specified	Uncertain significance (Nov 21, 2023)
6-4068838-G-A		not specified	Uncertain significance (Sep 01, 2021)
6-4068871-A-G		not specified	Uncertain significance (Jul 25, 2023)
6-4068919-C-T		not specified	Uncertain significance (Dec 28, 2022)
6-4068953-T-C		not specified	Uncertain significance (Oct 27, 2023)
6-4068958-T-C		not specified	Uncertain significance (Nov 15, 2021)
6-4069007-A-G		not specified	Uncertain significance (Feb 06, 2024)
6-4069036-A-G		not specified	Likely benign (Apr 22, 2022)
6-4069072-A-G		not specified	Likely benign (Dec 20, 2023)
6-4069147-G-T		not specified	Uncertain significance (Apr 22, 2022)
6-4069176-A-C		not specified	Uncertain significance (Mar 20, 2024)
6-4069197-C-G		not specified	Uncertain significance (Aug 02, 2021)
6-4069203-A-C			Likely benign (Nov 01, 2022)

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