Record detail

Record identity

Record ID

e0265600417b1d2910d589e7

Release version

webdb_threshold_completion_missing10_20260508

PMID

26740942 PubMed

Title

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

Journal

Molecular genetics & genomic medicine

Year

2015

DOI

10.1002/mgg3.160

PMC

PMC4694132 PMC

Variant information

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

Gene

FANCL

Query variant

NM_018062.4:c.50C>G

Normalized c.HGVS

c.50C>G

Normalized p.HGVS

p.(Pro17Arg)

Representative genomic HGVS

CM000664.1:g.58468399G>C

Genomic HGVS aliases

CM000664.1:g.58468399G>C; CM000664.2:g.58241264G>C; LRG_501:g.5116C>G; NC_000002.10:g.58321903G>C; NC_000002.11:g.58468399G>C; NC_000002.12:g.58241264G>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 c.1021T>A; c.676C>T; Arg226Cys; +1 more

PM3 evidence items

1

Allelic configuration type

Compound heterozygous candidate

Retained partner variants

• Arg226Cys
• Trp341Arg
• c.1021T>A
• c.676C>T

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 6 table windows

Context status

Found in final retained audit context

Text candidate windows

3

Table candidate windows

6

Target c.HGVS validated

Yes

Target p.HGVS validated

Yes

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

NXML/JATS full text

Evidence context scope

Supplement-focused audit context

Evidence location

Supp

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