Is BRD2 p.Asp570= (c.1710T>C) pathogenic?

BRD2 p.Asp570= (c.1710T>C) is classified Benign in BRD2 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-04-11). Common (popmax 9.04%, afr) — too common for a highly-penetrant pathogenic allele; Associated with BRD2-related disorder.

What condition is associated with BRD2 p.Asp570= (c.1710T>C)?

BRD2 p.Asp570= (c.1710T>C) is associated with BRD2-related disorder (ClinVar).

BRD2 p.Asp570=

Q: How common is BRD2 p.Asp570= (c.1710T>C) in the general population?

BRD2 p.Asp570= (c.1710T>C) is common (popmax 9.04%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.1710T>C · rs1063379 · VCV3060697

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 9.04%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

BRD2-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.033	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -3.2	GERP -3.7
Overall
CADD	1.08	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 9.04% African / African-American · 6,778/74,990 alleles

Filtering AF 8.86% ClinGen BA1/BS1 input FAF95, joint · FAF99 8.79%

Overall 2.41% 38,924/1,612,970 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	9.04%	11
Admixed American	6.44%	16
South Asian	4.38%	23
East Asian	4.28%	23
Ashkenazi Jewishnot grpmax-eligible	2.81%	36
Remaining individualsnot grpmax-eligible	2.77%	36
Amishnot grpmax-eligible	2.09%	48
European (non-Finnish)	1.66%	60
Middle Eastern	1.16%	87
Finnishnot grpmax-eligible	0.167%	599

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: BRD2
Protein: p.Asp570=
Coding: c.1710T>C
MANE Select: NM_005104
dbSNP: rs1063379
Type: single nucleotide variant
Location: chr6:32978257 (GRCh38)
Gene constraint: LOEUF 0.28 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 65.70 · 169 PDB
Residue 570: the 'disordered' region

Full BRD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

BRD2-related disorder

Similar variants

BRD2 p.Asp570Asn Uncertain significance ★ ⚠ same residue
BRD2 p.Asp570His Uncertain significance ★ ⚠ same residue
BRD2 c.334-10T>C Benign same condition
BRD2 c.472-5C>T Likely benign same condition
BRD2 p.Ala474Val Benign same condition
BRD2 p.Lys31= Benign same condition
BRD2 p.Lys751= Likely benign same condition
BRD2 p.Ser603= Benign same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/brd2-p-asp570 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown