Is STAT5B p.Ala714Ter (c.2135_2139dup) pathogenic?

STAT5B p.Ala714Ter (c.21352139dup) is classified Pathogenic in STAT5B (ClinVar, Single submitter, 1 submitter; last evaluated 2023-09-01). No gnomAD frequency available for this variant.

How common is STAT5B p.Ala714Ter (c.2135_2139dup) in the general population?

STAT5B p.Ala714Ter (c.2135_2139dup) is no gnomAD frequency available for this variant (gnomAD).

STAT5B p.Ala714Ter

c.2135_2139dup · rs2508698053 · VCV2570987

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 18 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.5	GERP 1.5, phastCons 0.75

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: STAT5B
Protein: p.Ala714Ter
Coding: c.2135_2139dup
MANE Select: NM_012448
dbSNP: rs2508698053
Type: Duplication
Location: chr17:42202437 (GRCh38)
Gene constraint: LOEUF 0.277 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 85.90 · 2 PDB

Full STAT5B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

STAT5B p.Ala714Thr Uncertain significance ★ ⚠ same residue
STAT5B p.Ala714= Likely benign ★ same residue
STAT5B p.Gln368fs Pathogenic ★★ same type
STAT5B c.1776-21_1786dup Likely pathogenic ★ same type
STAT5B p.Arg31fs Pathogenic ★ same type
STAT5B p.Lys501fs Pathogenic ★ same type
STAT5B c.1170-241dup Benign ★ same type
STAT5B p.Asn398fs Pathogenic 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/stat5b-p-ala714ter (accessed [today's date]).

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