STARD7

StAR related lipid transfer domain containing 7, the group of StAR related lipid transfer domain containing

Basic information

Region (hg38): 2:96184859-96208827

Links

ENSG00000084090 ∙ NCBI:56910 ∙ OMIM:616712 ∙ HGNC:18063 ∙ Uniprot:Q9NQZ5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Epilepsy, familial adult myoclonic, 2	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	31664034

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STARD7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STARD7 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				1		1
missense			25	1		26
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	0

Variants in STARD7

This is a list of pathogenic ClinVar variants found in the STARD7 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-96186746-C-T		not specified	Likely benign (May 08, 2023)
2-96186798-C-A			Uncertain significance (-)
2-96186885-T-C		not specified	Uncertain significance (Aug 20, 2024)
2-96186906-C-G		not specified	Uncertain significance (Jun 14, 2022)
2-96187232-A-G		not specified	Uncertain significance (Nov 06, 2023)
2-96187246-C-T		not specified	Uncertain significance (Oct 03, 2022)
2-96187258-G-A		not specified	Uncertain significance (Oct 03, 2024)
2-96192373-T-A		not specified	Uncertain significance (Nov 15, 2024)
2-96192391-C-T		not specified	Uncertain significance (Jul 05, 2023)
2-96192392-G-A		not specified	Uncertain significance (May 30, 2023)
2-96192399-C-T		not specified	Uncertain significance (Oct 12, 2021)
2-96192415-GA-G		STARD7-related disorder	Uncertain significance (Nov 16, 2023)
2-96192428-C-T		not specified	Uncertain significance (Feb 06, 2023)
2-96193092-C-T		not specified	Uncertain significance (Jun 30, 2023)
2-96193156-G-A		not specified	Uncertain significance (Dec 12, 2023)
2-96193280-T-A		not specified	Uncertain significance (Apr 11, 2023)
2-96193333-T-C		not specified	Uncertain significance (Jan 16, 2024)
2-96194965-T-C		Epilepsy, familial adult myoclonic, 2 • not specified	Uncertain significance (Apr 04, 2023)
2-96194999-T-C		not specified	Uncertain significance (Mar 01, 2024)
2-96195376-C-T		not specified	Uncertain significance (Feb 13, 2024)
2-96195387-C-A		not specified	Uncertain significance (May 23, 2023)
2-96195422-G-A		Epilepsy, familial adult myoclonic, 2	Uncertain significance (Sep 26, 2021)
2-96195427-T-C		not specified	Uncertain significance (Aug 11, 2024)
2-96195430-T-C		not specified	Uncertain significance (Aug 31, 2022)
2-96195479-G-A		Epilepsy, familial adult myoclonic, 2 • not specified	Uncertain significance (Oct 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STARD7	protein_coding	protein_coding	ENST00000337288	8	23967

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.472	0.528	125584	0	9	125593	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.958	177	217	0.817	0.0000120	2392
Missense in Polyphen		50	74.265	0.67326		804
Synonymous	-0.945	88	77.4	1.14	0.00000382	700
Loss of Function	3.17	4	18.9	0.212	8.87e-7	222

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000551	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000451	0.0000441
Middle Eastern	0.0000551	0.0000544
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a protective role in mucosal tissues by preventing exaggerated allergic responses. {ECO:0000250|UniProtKB:Q8R1R3}.
• Pathway: Metabolism of lipids;Metabolism;Synthesis of PC;Glycerophospholipid biosynthesis;Phospholipid metabolism (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.422
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.305
• hipred: Y
• hipred_score: 0.662
• ghis: 0.573

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.419

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stard7
• Phenotype: immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; respiratory system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype

Gene ontology

• Biological process: phosphatidylcholine biosynthetic process;phospholipid transport
• Cellular component: mitochondrial outer membrane
• Molecular function: phospholipid transporter activity;lipid binding