FAM221A

Gene

family with sequence similarity 221 member A

Gene summary

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

Previous symbols:

C7orf46

MANE transcript

NM_199136.5

Inheritance

—

ClinVar variants

U:59B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.12

Max pathogenic AF

—

Genomic locus

chr7:23,680,130-23,703,249

External References & Databases

Ensembl (ENSG00000188732)

Transcript & Mutation Effects

hg38 • Region Span ~23.1 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 FAM221A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 51

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_199136.5. 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			54 clinvar			54
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	59	1	0	60

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 76 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_199136.5	RefSeq	NP_954587.2	7	MANE Select
ENST00000344962.9	Ensembl	ENSP00000342576.4	7	MANE Select
NM_001127364.3	RefSeq	NP_001120836.1	6	Standard
NM_001127365.3	RefSeq	NP_001120837.1	5	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000344962
Coding exons: 7
Length: 23120
Individuals with no LoFs: 124754
Homozygous LoFs: 3
Heterozygous LoFs: 991
Defined: 125748
p: 0.00396

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.340	147	159	0.924	0.00000800	1917
Missense (PolyPhen)		58	58.01	0.99982		670
Synonymous	0.249	57	59.4	0.959	0.00000301	561
Loss of Function	-0.441	17	15.1	1.12	7.37e-7	195

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0015	notable
Latino/Admixed American	0.0027	0.0027	notable
Ashkenazi Jewish	0.0015	0.0015	notable
East Asian	0.000054	0.000054	rare
Finnish	0.00092	0.00083	rare
European (Non-Finnish)	0.0065	0.0065	notable
South Asian	0.0026	0.0026	notable
Other	0.0044	0.0044	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.97
RVIS percentile EVS: 90.34

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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