BORCS7-ASMT

BORCS7-ASMT readthrough (NMD candidate)

Basic information

Region (hg38): 10:102854271-102901899

Previous symbols: [ "C10orf32-ASMT" ]

Links

ENSG00000270316 ∙ NCBI:100528007 ∙ ∙ HGNC:49183 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BORCS7-ASMT gene.

• Inborn genetic diseases (13 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BORCS7-ASMT 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			12	1	1	14
Total	0	0	12	1	1

Variants in BORCS7-ASMT

This is a list of pathogenic ClinVar variants found in the BORCS7-ASMT region.

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

Position	Type	Phenotype	Significance	ClinVar
10-102854363-C-A		not specified	Likely benign (May 18, 2022)
10-102862887-C-T		not specified	Uncertain significance (Oct 17, 2023)
10-102862895-C-G		not specified	Uncertain significance (Dec 16, 2022)
10-102870074-G-T			Benign (Jul 05, 2018)
10-102872497-A-G		not specified	Uncertain significance (Sep 29, 2022)
10-102872531-G-T		not specified	Uncertain significance (May 17, 2023)
10-102872588-C-G		not specified	Uncertain significance (Oct 03, 2022)
10-102873124-T-C		not specified	Uncertain significance (Aug 04, 2023)
10-102873130-A-G		not specified	Uncertain significance (Oct 27, 2022)
10-102876981-G-A		not specified	Uncertain significance (Aug 30, 2022)
10-102878390-G-A		not specified	Uncertain significance (Aug 16, 2022)
10-102878429-C-A		not specified	Uncertain significance (Feb 06, 2024)
10-102878924-T-C		not specified	Uncertain significance (Oct 12, 2021)
10-102878941-A-G		not specified	Uncertain significance (Mar 21, 2023)
10-102890608-A-G		not specified	Uncertain significance (Mar 20, 2023)
10-102890620-T-C		not specified	Uncertain significance (Dec 21, 2023)
10-102890629-T-C		not specified	Uncertain significance (Nov 22, 2023)
10-102900606-A-G		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP