Record detail

Record identity

Record ID

fc04a11e1f1022142a3687c6

Release version

webdb_threshold_completion_missing10_20260508

PMID

29907797 PubMed

Title

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

Journal

Genetics in medicine : official journal of the American College of Medical Genetics

Year

2019

DOI

10.1038/s41436-018-0044-2

PMC

PMC6295275 PMC

Variant information

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

Gene

BCKDK

Query variant

NM_005881.4:c.847G>A

Normalized c.HGVS

c.847G>A

Normalized p.HGVS

p.(Ala283Thr)

Representative genomic HGVS

CM000678.1:g.31122622G>A

Genomic HGVS aliases

CM000678.1:g.31122622G>A; CM000678.2:g.31111301G>A; NC_000016.10:g.31111301G>A; NC_000016.8:g.31030123G>A; NC_000016.9:g.31122622G>A; NG_033011.1:g.8008G>A

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-confirmed PM3 evidence

Query-evidence confidence

High confidence

Exact query c.HGVS was found in retained evidence.

Phase-confirmed PM3 evidence

Yes

Phase-unconfirmed biallelic evidence

Yes

Other patient-level evidence

No

PM3 context

Confirmed in trans with deletion in trans; deletion on 16p which includes this gene

PM3 evidence items

2

Allelic configuration type

Confirmed in trans

Retained partner variants

• deletion in trans
• deletion on 16p which includes this gene

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: 3 text windows and 2 table windows

Context status

Found in final retained audit context

Text candidate windows

3

Table candidate windows

2

Target c.HGVS validated

Yes

Target p.HGVS validated

Yes

Target validation

Target variant matched with phase-confirmed PM3 evidence

Source provenance

Reviewed source

Supplementary material

Supplement used by audit

Yes

Supplement available

Yes

Reviewed document format

NXML/JATS full text

Evidence context scope

Supplement-focused audit context

Evidence location

Supp

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