DSCC1

Chr 8

DNA replication and sister chromatid cohesion 1

Also known as: DCC1

NCBI Gene: 79075 ENSG00000136982 UniProt: Q9BVC3 OMIM: 613203

The DSCC1 protein is a component of an alternative replication factor C complex that loads PCNA onto DNA during S phase and regulates DNA replication fork activity and sister chromatid cohesion. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.67), but specific disease associations and inheritance patterns have not been established in the provided data. Additional clinical and genetic studies are needed to define the phenotypic spectrum associated with DSCC1 variants.

OMIM ResearchSummary from RefSeq, UniProt

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in DSCC1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

451 rare PASS variants

Rare truncating (LoF)

1 in 2,600

76 rare PASS variants

Rare synonymous (reference)

1 in 690

154 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DSCC1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 230	1 in 2,600
South Asian	~43k	1 in 130	1 in 2,400
Remaining (unassigned)	~30k	1 in 160	1 in 3,300
European (Finnish)	~27k	1 in 320	≈ 1 in 8,600
Admixed American	~22k	1 in 180	1 in 3,700
African / African American	~21k	1 in 91	1 in 2,300
East Asian	~20k	1 in 200	1 in 1,300
Ashkenazi Jewish	~13k	1 in 360	none seen
Middle Eastern	~2,884	1 in 180	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.