FAM217A

Gene

family with sequence similarity 217 member A

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C6orf146

MANE transcript

NM_173563.3

Inheritance

—

ClinVar variants

U:67B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr6:4,049,434-4,087,344

External References & Databases

Ensembl (ENSG00000145975)

Transcript & Mutation Effects

hg38 • Region Span ~37.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FAM217A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 75

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173563.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			67 clinvar	11 clinvar		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	13	0	80

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173563.3	RefSeq	NP_775834.2	6	MANE Select
ENST00000274673.8	Ensembl	ENSP00000274673.3	6	MANE Select
ENST00000492651.5	Ensembl	ENSP00000418339.1	2	Standard
ENST00000498677.5	Ensembl	ENSP00000418500.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000274673
Coding exons: 6
Length: 37911
Individuals with no LoFs: 125561
Homozygous LoFs: 1
Heterozygous LoFs: 182
Defined: 125744
p: 0.000728

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.00735	254	254	0.999	0.0000120	3344
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0025	0.0023	notable
Latino/Admixed American	0.00096	0.00090	rare
Ashkenazi Jewish	0.00089	0.00089	rare
East Asian	0.00044	0.00044	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00063	0.00062	rare
South Asian	0.00066	0.00065	rare
Other	0.00098	0.00098	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 2.4
RVIS percentile EVS: 98.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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