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GeneBe

STARD10

StAR related lipid transfer domain containing 10, the group of StAR related lipid transfer domain containing

Basic information

Region (hg38): 11:72754728-72794047

Previous symbols: [ "SDCCAG28" ]

Links

ENSG00000214530NCBI:10809OMIM:617382HGNC:10666Uniprot:Q9Y365AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STARD10 gene.

  • Inborn genetic diseases (14 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STARD10 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
clinvar
1
missense
14
clinvar
14
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 14 0 1

Variants in STARD10

This is a list of pathogenic ClinVar variants found in the STARD10 region.

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

Position Type Phenotype Significance ClinVar
11-72754901-G-T not specified Uncertain significance (Dec 20, 2023)3170941
11-72754915-G-C not specified Uncertain significance (Mar 01, 2024)3170940
11-72754929-C-T not specified Uncertain significance (Sep 17, 2021)2205089
11-72754972-C-T Benign (Aug 15, 2017)787090
11-72754985-A-G not specified Uncertain significance (Jan 06, 2023)2473995
11-72755015-G-A not specified Uncertain significance (Mar 02, 2023)2493831
11-72755034-G-C not specified Uncertain significance (Jan 07, 2022)2375457
11-72755057-G-A not specified Uncertain significance (Aug 30, 2022)2309503
11-72755132-T-A not specified Uncertain significance (Mar 12, 2024)3170939
11-72755741-T-G not specified Uncertain significance (May 25, 2022)2290847
11-72757802-C-T not specified Uncertain significance (Jan 17, 2024)3170938
11-72757872-G-A not specified Uncertain significance (Dec 27, 2023)3170937
11-72758588-C-T not specified Uncertain significance (Aug 08, 2023)2617199
11-72758589-G-A not specified Uncertain significance (Aug 28, 2023)2590933
11-72759257-T-C not specified Uncertain significance (Feb 16, 2023)2485680
11-72759378-G-A not specified Uncertain significance (May 04, 2022)2410952
11-72781068-C-A not specified Uncertain significance (Jan 03, 2024)3170936
11-72781076-C-G not specified Uncertain significance (Aug 12, 2021)2243525
11-72781124-C-T not specified Uncertain significance (Jan 10, 2023)2461384
11-72781130-C-A not specified Uncertain significance (Apr 07, 2022)2282004
11-72781160-T-C not specified Uncertain significance (Jul 27, 2021)2239684

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
STARD10protein_codingprotein_codingENST00000334805 638953
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00008170.9321248570321248890.000128
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.341441970.7320.00001301891
Missense in Polyphen4259.4940.70595553
Synonymous0.2238486.60.9700.00000646560
Loss of Function1.67916.30.5548.78e-7169

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00008700.0000870
Ashkenazi Jewish0.000.00
East Asian0.00005560.0000556
Finnish0.00004640.0000464
European (Non-Finnish)0.0001950.000194
Middle Eastern0.00005560.0000556
South Asian0.0001640.000163
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May play metabolic roles in sperm maturation or fertilization (By similarity). Phospholipid transfer protein that preferentially selects lipid species containing a palmitoyl or stearoyl chain on the sn-1 and an unsaturated fatty acyl chain (18:1 or 18:2) on the sn-2 position. Able to transfer phosphatidylcholine (PC) and phosphatidyetanolamline (PE) between membranes. {ECO:0000250, ECO:0000269|PubMed:15911624}.;
Pathway
Metabolism of lipids;Metabolism;Synthesis of PC;Glycerophospholipid biosynthesis;Phospholipid metabolism (Consensus)

Intolerance Scores

loftool
0.458
rvis_EVS
-0.2
rvis_percentile_EVS
38.82

Haploinsufficiency Scores

pHI
0.231
hipred
N
hipred_score
0.399
ghis
0.459

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.397

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Stard10
Phenotype
behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; skeleton phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
phosphatidylcholine biosynthetic process;phospholipid transport;bile acid secretion;positive regulation of peroxisome proliferator activated receptor signaling pathway
Cellular component
cytosol;microvillus;membrane;motile cilium;intercellular canaliculus
Molecular function
protein binding;phospholipid transporter activity;lipid binding