Is RAD50 p.Lys71= (c.213G>A) pathogenic?

RAD50 p.Lys71= (c.213G>A) is classified Uncertain significance in RAD50 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-02-10). Absent from gnomAD v4.1; Associated with hereditary neoplastic syndrome.

What condition is associated with RAD50 p.Lys71= (c.213G>A)?

RAD50 p.Lys71= (c.213G>A) is associated with hereditary neoplastic syndrome (ClinVar).

How common is RAD50 p.Lys71= (c.213G>A) in the general population?

RAD50 p.Lys71= (c.213G>A) is absent from gnomAD v4.1 (gnomAD).

RAD50 p.Lys71=

c.213G>A · rs1554096794 · VCV482093

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.87	donor loss · deltas
Pangolin	Δ0.69	loss · gain 0.27 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP 9.5	GERP 3.4, phastCons 1
Overall
CADD	23.7	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: RAD50
Protein: p.Lys71=
Coding: c.213G>A
MANE Select: NM_005732
dbSNP: rs1554096794
Type: single nucleotide variant
Location: chr5:132559367 (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

Similar variants

RAD50 p.Lys71Glu Uncertain significance ★★ ⚠ same residue
RAD50 p.Lys71Met Uncertain significance ★★ ⚠ same residue
RAD50 p.Lys71Thr Uncertain significance ★★ ⚠ same residue
RAD50 p.Lys71Arg Uncertain significance ★ ⚠ same residue
RAD50 p.Lys71fs Pathogenic ★ 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

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-lys71 (accessed [today's date]).

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