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NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 10, 2021)
Last evaluated:
Jun 16, 2020
Accession:
VCV000998268.1
Variation ID:
998268
Description:
single nucleotide variant
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NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu)

Allele ID
985939
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10090384 (GRCh38) GRCh38 UCSC
3: 10132068 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_306:g.68956A>T
NC_000003.11:g.10132068A>T
NC_000003.12:g.10090384A>T
... more HGVS
Protein change
Q1222L, Q1259L
Other names
-
Canonical SPDI
NC_000003.12:10090383:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 16, 2020 RCV001294046.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FANCD2 - - GRCh38
GRCh37
35 663
FANCD2OS - - - GRCh38
GRCh37
- 216

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 16, 2020)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group D2
Allele origin: unknown
Baylor Genetics
Study: CSER-TexasKidsCanSeq
Accession: SCV001482815.1
Submitted: (Feb 10, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Mar 12, 2021