Record detail

Record identity

Record ID

a866ca59f8713139fadf828e

Release version

webdb_threshold_completion_missing10_20260508

PMID

35860583 PubMed

Title

Patient Derived Organoids Confirm That PI3K/AKT Signalling Is an Escape Pathway for Radioresistance and a Target for Therapy in Rectal Cancer.

Journal

Frontiers in oncology

Year

2022

DOI

10.3389/fonc.2022.920444

PMC

PMC9289101 PMC

Variant information

This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.

Gene

MSH6

Query variant

NM_000179.3:c.3310_3312del

Normalized c.HGVS

c.3310_3312del

Normalized p.HGVS

p.(Phe1104del)

Representative genomic HGVS

CM000664.1:g.48030696_48030698del

Genomic HGVS aliases

CM000664.1:g.48030696_48030698del; CM000664.2:g.47803557_47803559del; LRG_219:g.25411_25413del; NC_000002.10:g.47884200_47884202del; NC_000002.11:g.48030696_48030698del; NC_000002.12:g.47803557_47803559del; and 1 more

CoGenEx-PM3 evidence

Evidence status is assigned at the PMID × variant level and should not be interpreted as a final variant-level pathogenicity classification.

Evidence status

Phase-unconfirmed biallelic evidence

Query-evidence confidence

Not assessed

This record was not classified by the simple-SNV query-evidence audit.

Phase-confirmed PM3 evidence

No

Phase-unconfirmed biallelic evidence

Yes

Other patient-level evidence

No

PM3 context

Possible compound heterozygous with F1088fs; L1330fs; p.Leu1330fs; +1 more

PM3 evidence items

1

Allelic configuration type

Compound heterozygous candidate

Retained partner variants

• F1088fs
• L1330fs
• p.Leu1330fs
• p.Phe1088fs

Partner variants are retained structured tokens from CoGenEx-PM3 evidence items. They are not transcript-normalized in this release.

Candidate context and target validation

Candidate context windows are places selected for audit because the query or its aliases may be relevant. They are not the same as a validated match to the target c.HGVS or p.HGVS expression.

Candidate context

Candidate context retained: 1 text window and 1 table window

Context status

Found in final retained audit context

Text candidate windows

1

Table candidate windows

1

Target c.HGVS validated

No

Target p.HGVS validated

No

Target validation

Target variant matched with phase-unconfirmed biallelic evidence

Source provenance

Reviewed source

Supplementary material

Supplement used by audit

Yes

Supplement available

Yes

Reviewed document format

BioC full text

Evidence context scope

Supplement-focused audit context

Evidence location

Supp

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