FAM187A

family with sequence similarity 187 member A, the group of V-set domain containing

Basic information

Region (hg38): 17:44899773-44905390

Links

ENSG00000214447 ∙ NCBI:100528020 ∙ ∙ HGNC:35153 ∙ Uniprot:A6NFU0 ∙ 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 FAM187A gene.

• Primary ciliary dyskinesia 17 (9 variants)
• Primary ciliary dyskinesia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM187A 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			9			9
Total	0	0	9	0	0

Variants in FAM187A

This is a list of pathogenic ClinVar variants found in the FAM187A region.

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

Position	Type	Phenotype	Significance	ClinVar
17-44899795-G-C		Primary ciliary dyskinesia 17	Uncertain significance (Jan 13, 2018)
17-44899824-G-A		Primary ciliary dyskinesia 17	Benign (Jan 13, 2018)
17-44899853-C-T		Primary ciliary dyskinesia 17	Uncertain significance (Jan 13, 2018)
17-44899858-G-A		Primary ciliary dyskinesia 17	Uncertain significance (Jan 13, 2018)
17-44900676-C-A			Benign (Jul 09, 2018)
17-44901003-A-G		Primary ciliary dyskinesia	Uncertain significance (Aug 24, 2021)
17-44901006-G-A		Primary ciliary dyskinesia 17	Uncertain significance (Jan 13, 2018)
17-44901012-ACAT-A		Primary ciliary dyskinesia	Uncertain significance (Oct 30, 2017)
17-44901029-G-C		Primary ciliary dyskinesia • Primary ciliary dyskinesia 17	Conflicting classifications of pathogenicity (Aug 21, 2022)
17-44901046-G-A		Primary ciliary dyskinesia	Likely benign (Oct 30, 2023)
17-44901050-G-A		Primary ciliary dyskinesia	Uncertain significance (Dec 12, 2023)
17-44901057-T-C		Primary ciliary dyskinesia	Uncertain significance (Oct 05, 2021)
17-44901059-A-G		Primary ciliary dyskinesia	Likely benign (Nov 17, 2023)
17-44901064-T-A		Primary ciliary dyskinesia	Likely benign (Jul 19, 2023)
17-44901064-T-C		Primary ciliary dyskinesia	Likely benign (Nov 14, 2023)
17-44901067-T-C		Primary ciliary dyskinesia	Likely benign (Apr 28, 2023)
17-44901070-G-A		Primary ciliary dyskinesia 17 • Primary ciliary dyskinesia	Conflicting classifications of pathogenicity (Dec 26, 2023)
17-44901076-C-T		Primary ciliary dyskinesia	Likely benign (Mar 22, 2023)
17-44901079-A-G		Primary ciliary dyskinesia	Likely benign (Apr 20, 2018)
17-44901080-C-T		Primary ciliary dyskinesia	Uncertain significance (Aug 08, 2022)
17-44901102-G-A		Primary ciliary dyskinesia 17 • Primary ciliary dyskinesia	Uncertain significance (Sep 06, 2022)
17-44901102-G-C			Uncertain significance (-)
17-44901104-G-A		Primary ciliary dyskinesia	Uncertain significance (Jul 12, 2019)
17-44901113-C-T		Primary ciliary dyskinesia	Pathogenic (Oct 25, 2016)
17-44901127-C-T		Primary ciliary dyskinesia	Likely benign (Oct 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM187A	protein_coding	protein_coding	ENST00000331733	1	5624

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000654	0.484	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.43	184	247	0.744	0.0000152	2686
Missense in Polyphen		75	94.331	0.79507		1010
Synonymous	-0.282	99	95.5	1.04	0.00000537	841
Loss of Function	0.623	9	11.3	0.800	4.81e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0158

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam187a

Gene ontology

• Cellular component: integral component of membrane