Is RECQL p.Glu616= (c.1848G>A) pathogenic?

RECQL p.Glu616= (c.1848G>A) is classified Conflicting classifications of pathogenicity in RECQL (ClinVar, Conflicting submitters, 3 submitters; last evaluated 2023-07-18). Very rare (popmax 0.00409%, afr).

How common is RECQL p.Glu616= (c.1848G>A) in the general population?

RECQL p.Glu616= (c.1848G>A) is very rare (popmax 0.00409%, afr) (gnomAD).

RECQL p.Glu616=

c.1848G>A · rs1369932572 · VCV1635984

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00409%, afr)

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 1.2	GERP 0.28, phastCons 0.1
Overall
CADD	4.751	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00409% African / African-American · 3/73,424 alleles

Filtering AF 0.00109% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000501%

Overall 0.000249% 4/1,604,180 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00409%	24,475
Remaining individualsnot grpmax-eligible	0.00161%	62,074

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: RECQL
Protein: p.Glu616=
Coding: c.1848G>A
MANE Select: NM_024854 · reported on NM_002907
dbSNP: rs1369932572
Type: single nucleotide variant
Location: chr12:21470296 (GRCh38)

Full RECQL 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/recql-p-glu616 (accessed [today's date]).

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