SEC14L5

protein-coding

SEC14 like lipid binding 5, the group of SEC14 family|PRELI domain containing

Gene summary

Predicted to be located in mitochondrial intermembrane space. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_014692.2

Inheritance

—

ClinVar variants

U:142B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.94

Max pathogenic AF

—

Genomic locus

chr16:4,958,330-5,019,157

External References & Databases

Ensembl (ENSG00000103184)

Transcript & Mutation Effects

hg38 • Region Span ~60.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SEC14L5 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 147

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014692.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			140 clinvar	8 clinvar		148
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	142	8	0	150

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014692.2	RefSeq	NP_055507.1	15	MANE Select
ENST00000251170.12	Ensembl	ENSP00000251170.6	15	MANE Select
ENST00000587469.1	Ensembl	ENSP00000468423.1	5	Standard
ENST00000867654.1	Ensembl	ENSP00000537713.1	15	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000251170
Coding exons: 15
Length: 60842
Individuals with no LoFs: 124556
Homozygous LoFs: 2
Heterozygous LoFs: 144
Defined: 124702
p: 0.000586

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.43	507	424	1.20	0.0000271	4473
Missense (PolyPhen)		147	133.97	1.0973		1495
Synonymous	-3.64	238	176	1.35	0.0000113	1362
Loss of Function	0.339	34	36.2	0.939	0.00000189	387

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00045	0.00045	rare
Latino/Admixed American	0.00039	0.00038	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00040	0.00039	rare
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.00059	0.00058	rare
South Asian	0.0014	0.0014	notable
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.599
RVIS EVS: -1.7
RVIS percentile EVS: 2.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.470

Gene Damage Prediction

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