ABCA10ATP-binding cassette, sub-family A (ABC1), member 10
Autism Reports / Total Reports
4 / 4Rare Variants / Common Variants
6 / 0Aliases
ABCA10, EST698739Associated Syndromes
-Chromosome Band
17q24.3Associated Disorders
-Relevance to Autism
A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).
Molecular Function
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. The probable transporter encoded by this gene may play a role in macrophage lipid homeostasis.
External Links
SFARI Genomic Platforms
Reports related to ABCA10 (4 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders | Lim ET , et al. (2013) | Yes | - |
2 | Support | - | Zhou X et al. (2022) | Yes | - |
3 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
4 | Support | - | Suhua Chang et al. () | Yes | - |
Rare Variants (6)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.3145T>A | p.Ser1049Thr | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.3283-4dup | - | splice_region_variant | De novo | - | Simplex | 39126614 | Suhua Chang et al. () | |
c.393T>C | p.Ile131%3D | synonymous_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.3964C>T | p.Arg1322Ter | stop_gained | Familial | Both parents | Multiplex | 23352160 | Lim ET , et al. (2013) | |
c.2836del | p.Val946PhefsTer7 | frameshift_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.3795_3813del | p.Gln1266Ter | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022

Decreased from 3 to 2
Description
A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).
Reports Added
[New Scoring Scheme]7/1/2015

Increased from to 4
Description
A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).
Krishnan Probability Score
Score 0.452888819844
Ranking 10401/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 1.2068864366045E-27
Ranking 18131/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94683339126876
Ranking 17030/18665 scored genes
[Show Scoring Methodology]