SAMD9L

sterile alpha motif domain containing 9 like, the group of Sterile alpha motif domain containing

Basic information

Region (hg38): 7:93130056-93148385

Previous symbols: [ "C7orf6" ]

Links

ENSG00000177409 ∙ NCBI:219285 ∙ OMIM:611170 ∙ HGNC:1349 ∙ Uniprot:Q8IVG5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• ataxia-pancytopenia syndrome (Strong), mode of inheritance: AD
• ataxia-pancytopenia syndrome (Limited), mode of inheritance: AD
• ataxia-pancytopenia syndrome (Supportive), mode of inheritance: AD
• ataxia-pancytopenia syndrome (Definitive), mode of inheritance: AD
• spinocerebellar ataxia 49 (Limited), mode of inheritance: AD
• SAMD9L-related spectrum and myeloid neoplasm risk (Definitive), mode of inheritance: AD
• ataxia-pancytopenia syndrome (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ataxia-pancytopenia syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 1	AD	Allergy/Immunology/Infectious; Hematologic; Oncologic	Ataxia-pancytopenia syndrome can include pancytopenia and related infectious risks, and awareness may allow prophylactic measures and early and aggressive treatment of infections and hematologic issues; Individuals have been descriebd with hematologic malignancies, and awareness may allow surveillance and prompt detection and management; Monosomy 7 myelodysplasia and leukemia syndrome 1 involves germline genetic anomaly as well as associated somatic loss of chromosome 7, and results in increased risk of hematologic malignancy such that awareness may allow early diagnosis and management of disease	Allergy/Immunology/Infectious; Hematologic; Neurologic; Oncologic	283689; 27259050; 30046003; 30322869; 35310830

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SAMD9L gene.

• Inborn_genetic_diseases (1667 variants)
• not_provided (1195 variants)
• not_specified (95 variants)
• Ataxia-pancytopenia_syndrome (93 variants)
• SAMD9L-related_disorder (90 variants)
• Monosomy_7_myelodysplasia_and_leukemia_syndrome_1 (44 variants)
• Spinocerebellar_ataxia_49 (40 variants)
• Microcephaly (3 variants)
• Primary_ciliary_dyskinesia_12 (2 variants)
• Hereditary_cancer-predisposing_syndrome (1 variants)
• Intellectual_disability (1 variants)
• See_cases (1 variants)
• interferonopathy (1 variants)
• SAMD9L-associated_autoinflammatory_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SAMD9L gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152703.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			9	579		588
missense	4	17	1433	110	7	1571
nonsense		2	52	1		55
start loss			2			2
frameshift		6	55	1		62
splice donor/acceptor (+/-2bp)			1			1
Total	4	25	1552	691	7

Highest pathogenic variant AF is 0.0000092984155

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SAMD9L	protein_coding	protein_coding	ENST00000318238	1	18315

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		124982	1	755	125738	0.00301

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.63	661	790	0.836	0.0000385	10531
Missense in Polyphen		159	196.97	0.80725		2746
Synonymous	-0.511	294	283	1.04	0.0000135	2889
Loss of Function	2.86	32	54.9	0.583	0.00000297	761

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00325	0.00324
Ashkenazi Jewish	0.00459	0.00457
East Asian	0.000654	0.000653
Finnish	0.00569	0.00556
European (Non-Finnish)	0.00397	0.00388
Middle Eastern	0.000654	0.000653
South Asian	0.000915	0.000915
Other	0.00247	0.00245

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in endosome fusion. Mediates down- regulation of growth factor signaling via internalization of growth factor receptors. {ECO:0000250|UniProtKB:Q69Z37}.

Recessive Scores

• pRec: 0.0905

Intolerance Scores

• rvis_EVS: -0.03
• rvis_percentile_EVS: 50.56

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.252

Gene Damage Prediction

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

Gene ontology

• Biological process: endosomal vesicle fusion
• Cellular component: cytoplasm;early endosome
• Molecular function: protein binding