Is RET p.Ser671del (c.2007CTC[1]) pathogenic?

RET p.Ser671del (c.2007CTC[1]) is classified Uncertain significance in RET (ClinVar, Multiple submitters, 3 submitters; last evaluated 2024-12-16). No gnomAD frequency available for this variant; Associated with hereditary neoplastic syndrome.

What condition is associated with RET p.Ser671del (c.2007CTC[1])?

RET p.Ser671del (c.2007CTC[1]) is associated with hereditary neoplastic syndrome, multiple endocrine neoplasia type 2 (ClinVar).

How common is RET p.Ser671del (c.2007CTC[1]) in the general population?

RET p.Ser671del (c.2007CTC[1]) is no gnomAD frequency available for this variant (gnomAD).

RET p.Ser671del

c.2007CTC[1] · rs2538498105 · VCV2735329

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 1.9, phastCons 1

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: RET
Protein: p.Ser671del
Coding: c.2007CTC[1]
MANE Select: NM_020975
dbSNP: rs2538498105
Type: Microsatellite
Location: chr10:43114607 (GRCh38)
Gene constraint: LOEUF 0.24 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 79.27 · 34 PDB

Full RET 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: multiple endocrine neoplasia type 2

Similar variants

RET p.Arg1013del Uncertain significance ★★ same condition
RET p.Asp1031del Uncertain significance ★★ same condition
RET p.Glu530del Uncertain significance ★★ same condition
RET p.Glu616_Lys617insGlu Uncertain significance ★★ same condition
RET p.Phe150del Uncertain significance ★★ same condition
RET p.Ser1073fs Uncertain significance ★★ same condition
RET p.Ser1034fs Pathogenic ★ same condition
RET c.1063+6_1063+7del Uncertain significance ★ 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/ret-p-ser671del (accessed [today's date]).

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