Record detail

Record identity

Record ID

db823687b12a4536c9811fb2

Release version

webdb_threshold_completion_missing10_20260508

PMID

21837758 PubMed

Title

The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex.

Journal

Molecular carcinogenesis

Year

2012

DOI

10.1002/mc.20838

PMC

PMC3220760 PMC

Variant information

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

Gene

MSH2

Query variant

NM_000251.3:c.1A>C

Normalized c.HGVS

c.1A>C

Normalized p.HGVS

p.?

Representative genomic HGVS

CM000664.1:g.47630331A>C

Genomic HGVS aliases

CM000664.1:g.47630331A>C; CM000664.2:g.47403192A>C; LRG_218:g.5069A>C; NC_000002.10:g.47483835A>C; NC_000002.11:g.47630331A>C; NC_000002.12:g.47403192A>C; 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

High confidence

Exact query c.HGVS was found in retained evidence.

Phase-confirmed PM3 evidence

No

Phase-unconfirmed biallelic evidence

Yes

Other patient-level evidence

No

PM3 context

Possible compound heterozygous with deletion of the first 6 exons of MSH2

PM3 evidence items

1

Allelic configuration type

Compound heterozygous candidate

Retained partner variants

• deletion of the first 6 exons of MSH2

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: 24 text windows and 3 table windows

Context status

Found in final retained audit context

Text candidate windows

24

Table candidate windows

3

Target c.HGVS validated

Yes

Target p.HGVS validated

No

Target validation

Target variant matched with phase-unconfirmed biallelic evidence

Source provenance

Reviewed source

Main article

Supplement used by audit

No

Supplement available

No

Reviewed document format

BioC full text

Evidence context scope

Primary audit context

Evidence location

Main article

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