Is RAD50 p.Asp970= (c.2910C>T) pathogenic?

RAD50 p.Asp970= (c.2910C>T) is classified Benign/Likely benign in RAD50 (ClinVar, Multiple submitters, 11 submitters; last evaluated 2026-04-01). Low-frequency (popmax 1.22%, afr); Associated with hereditary neoplastic syndrome.

What condition is associated with RAD50 p.Asp970= (c.2910C>T)?

RAD50 p.Asp970= (c.2910C>T) is associated with hereditary neoplastic syndrome, Nijmegen breakage syndrome-like disorder, hereditary breast carcinoma (ClinVar).

How common is RAD50 p.Asp970= (c.2910C>T) in the general population?

RAD50 p.Asp970= (c.2910C>T) is low-frequency (popmax 1.22%, afr) (gnomAD).

RAD50 p.Asp970=

c.2910C>T · rs148269640 · VCV37385

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 11 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.22%, afr)

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -5.4	GERP -6.8
Overall
CADD	2.479	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.22% African / African-American · 913/74,910 alleles

Filtering AF 1.15% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.13%

Overall 0.0788% 1,269/1,611,174 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	1.22%	82
Admixed American	0.274%	365
Remaining individualsnot grpmax-eligible	0.133%	752
Middle Eastern	0.1%	1,000
European (non-Finnish)	0.00857%	11,670
East Asian	0.00223%	44,744
South Asian	0.00111%	90,212

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: RAD50
Protein: p.Asp970=
Coding: c.2910C>T
MANE Select: NM_005732
dbSNP: rs148269640
Type: single nucleotide variant
Location: chr5:132609197 (GRCh38)
Gene constraint: LOEUF 0.889 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 82.83 · 6 PDB

Full RAD50 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Nijmegen breakage syndrome-like disorder hereditary breast carcinoma

Similar variants

RAD50 p.Asp970Asn Uncertain significance ★ ⚠ same residue
RAD50 p.Asp970Gly Uncertain significance ★ ⚠ same residue
RAD50 p.Asp970Tyr Uncertain significance ★ ⚠ same residue
RAD50 c.1051+1G>A Likely pathogenic ★★ same condition
RAD50 c.1052-1G>A Likely pathogenic ★★ same condition
RAD50 c.1052-1G>T Pathogenic/Likely pathogenic ★★ same condition
RAD50 c.1052-2A>C Likely pathogenic ★★ same condition
RAD50 c.1245+1G>A Pathogenic/Likely pathogenic ★★ 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/rad50-p-asp970 (accessed [today's date]).

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