Is ATM p.Asp983= (c.2949C>T) pathogenic?

ATM p.Asp983= (c.2949C>T) is classified Likely benign in ATM (ClinVar, Multiple submitters, 2 submitters; last evaluated 2017-12-23). No allele count reported in gnomAD v4.1 (AN 1,612,874); Associated with hereditary neoplastic syndrome.

What condition is associated with ATM p.Asp983= (c.2949C>T)?

ATM p.Asp983= (c.2949C>T) is associated with hereditary neoplastic syndrome, ataxia telangiectasia (ClinVar).

How common is ATM p.Asp983= (c.2949C>T) in the general population?

ATM p.Asp983= (c.2949C>T) is no allele count reported in gnomAD v4.1 (AN 1,612,874) (gnomAD).

ATM p.Asp983=

c.2949C>T · rs1555085022 · VCV481295

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,612,874)

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 0.39	GERP -0.52, phastCons 0.99
Overall
CADD	8.285	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,612,874). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ATM
Protein: p.Asp983=
Coding: c.2949C>T
MANE Select: NM_000051
dbSNP: rs1555085022
Type: single nucleotide variant
Location: chr11:108271278 (GRCh38)
Gene constraint: LOEUF 0.847 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Residue 983: a UniProt-annotated variant site (in at); a UniProt-annotated variant site (in at; uncertain significance)

Full ATM 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: ataxia telangiectasia

Similar variants

ATM p.Asp983Asn Uncertain significance ★★ same residue
ATM p.Asp983Tyr Uncertain significance ★★ ⚠ same residue
ATM p.Asp983fs Pathogenic ★ same residue
ATM p.Asp983Ter Pathogenic ★ same residue
ATM c.1607+1G>T Pathogenic ★★★ same condition
ATM c.2251-4A>G Likely pathogenic ★★★ same condition
ATM c.2466+5G>C Likely pathogenic ★★★ same condition
ATM c.3078-1G>A 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/atm-p-asp983 (accessed [today's date]).

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