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TBC1D7-LOC100130357

Chr 6

TBC1D7-LOC100130357 readthrough

NCBI Gene: 107080638

The readthrough transcript between TBC1D7 and LOC100130357 may encode the same protein as TBC1D7, which functions as a component of the TSC1-TSC2-TBC1D7 complex that regulates mTORC1 signaling and cellular growth. Mutations in TBC1D7 cause intellectual disability with macrocephaly, seizures, and autism spectrum disorder with autosomal recessive inheritance. The clinical significance of this specific readthrough transcript remains unclear as it may be subject to nonsense-mediated decay.

ResearchSummary from RefSeq

This locus represents naturally occurring readthrough transcription between the neighboring TBC1D7 (TBC1 domain family member 7) gene and downstream uncharacterized LOC100130357 on chromosome 6. Readthrough transcripts may encode the same protein as TBC1 domain family member 7 or may be candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Clinical Summary— TBC1D7-LOC100130357

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ClinVar Variants

10 unique Pathogenic / Likely Pathogenic· 80 VUS of 196 total submissions

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Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/TBC1D7-LOC100130357?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

196 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8

Likely Pathogenic2

VUS80

Likely Benign49

Benign33

Conflicting6

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	5	3	0	0	8
Likely Pathogenic	2	0	0	0	2
VUS	5	73	2	0	80
Likely Benign	1	7	17	24	49
Benign	0	2	25	6	33
Conflicting	—				6
Total	13	85	44	30	178

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

13 pathogenic / likely-pathogenic (of 14) ClinVar copy-number / structural variants overlap TBC1D7-LOC100130357 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →