Is RORA p.Asp205= (c.615C>T) pathogenic?

RORA p.Asp205= (c.615C>T) is classified Benign in RORA (ClinVar, Multiple submitters, 3 submitters; last evaluated 2019-12-31). Low-frequency (popmax 2.58%, afr).

How common is RORA p.Asp205= (c.615C>T) in the general population?

RORA p.Asp205= (c.615C>T) is low-frequency (popmax 2.58%, afr) (gnomAD).

RORA p.Asp205=

c.615C>T · rs61742834 · VCV714655

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.58%, afr)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -2.4	GERP -2.1
Overall
CADD	8.997	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.58% African / African-American · 1,934/75,032 alleles

Filtering AF 2.48% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.44%

Overall 0.137% 2,219/1,614,168 alleles · low-frequency exomes 1,088/1,461,888 · genomes 1,131/152,280 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.58%	39
Admixed American	0.185%	541
Remaining individualsnot grpmax-eligible	0.179%	558
Middle Eastern	0.0495%	2,021
European (non-Finnish)	0.00483%	20,702
East Asian	0.00223%	44,880
South Asian	0.0011%	91,076

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: RORA
Protein: p.Asp205=
Coding: c.615C>T
MANE Select: NM_134261
dbSNP: rs61742834
Type: single nucleotide variant
Location: chr15:60511431 (GRCh38)

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

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/rora-p-asp205 (accessed [today's date]).

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