Is DCD p.Asp71Asn (c.211G>A) pathogenic?

DCD p.Asp71Asn (c.211G>A) is classified Benign in DCD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-09-03). AlphaMissense: likely benign (0.1913); Rare (popmax 0.842%, nfe).

How common is DCD p.Asp71Asn (c.211G>A) in the general population?

DCD p.Asp71Asn (c.211G>A) is rare (popmax 0.842%, nfe) (gnomAD).

What do computational predictors say about DCD p.Asp71Asn (c.211G>A)?

AlphaMissense predicts likely benign (score 0.1913) — an in-silico prediction, not a clinical call.

DCD p.Asp71Asn

c.211G>A · rs36031159 · VCV790368

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.1913 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.842%, nfe)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1913	likely benign
REVEL	0.013	strongly benign-leaning
SaProt	LLR -8.08	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -6.7	GERP -1.5
Regional constraint	o/e 1.04	unconstrained · MANE · 3,587 bp · p 0.63 · regional, not allelic
Overall
CADD	4.376	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.842% European (non-Finnish) · 9,932/1,179,932 alleles

Filtering AF 0.828% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.822%

Overall 0.723% 11,677/1,613,976 alleles · rare

Ancestry group	Frequency	1 in
Finnishnot grpmax-eligible	1.12%	90
Ashkenazi Jewishnot grpmax-eligible	1.06%	95
European (non-Finnish)grpmax	0.842%	119
Remaining individualsnot grpmax-eligible	0.741%	135
Amishnot grpmax-eligible	0.439%	228
Admixed American	0.165%	606
African / African-American	0.0933%	1,071
South Asian	0.0845%	1,183
Middle Eastern	0.066%	1,516
East Asian	0.00223%	44,866

Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: DCD
Protein: p.Asp71Asn
Coding: c.211G>A
MANE Select: NM_053283
dbSNP: rs36031159
Type: single nucleotide variant
Location: chr12:54645251 (GRCh38)
Gene constraint: LOEUF 1.809 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 64.88 · 4 PDB
Residue 71: an α-helix; a binding site

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

Similar variants

DCD p.Asn32Lys Uncertain significance ★ ⚠ same type
DCD p.Asn32Ser Uncertain significance ★ ⚠ same type
DCD p.Asp101Glu Uncertain significance ★ ⚠ same type
DCD p.Glu89Lys Uncertain significance ★ ⚠ same type
DCD p.Glu92Gly Uncertain significance ★ ⚠ same type
DCD p.Gly46Val Uncertain significance ★ ⚠ same type
DCD p.Gly81Arg Uncertain significance ★ ⚠ same type
DCD p.Leu65Phe Uncertain significance ★ ⚠ same type

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/dcd-p-asp71asn (accessed [today's date]).

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