Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000135.4(FANCA):c.283+1G>T

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 4, 2020)
Last evaluated:
Aug 3, 2018
Accession:
VCV000555413.4
Variation ID:
555413
Description:
single nucleotide variant
Help

NM_000135.4(FANCA):c.283+1G>T

Allele ID
548260
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89814519 (GRCh38) GRCh38 UCSC
16: 89880927 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_495:g.7139G>T
LRG_495t1:c.283+1G>T
NC_000016.10:g.89814519C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:89814518:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1232171121
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Dec 4, 2017 RCV000671233.2
Pathogenic 1 criteria provided, single submitter Aug 3, 2018 RCV000806911.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FANCA - - GRCh38
GRCh37
2154 2645

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 04, 2017)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group A
Allele origin: unknown
Counsyl
Accession: SCV000796188.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Aug 03, 2018)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia
Allele origin: germline
Invitae
Accession: SCV000946932.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change affects a donor splice site in intron 3 of the FANCA gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Feb 28, 2020)
no assertion criteria provided
Method: curation
Fanconi anemia, complementation group A
Allele origin: germline
Leiden Open Variation Database
Accession: SCV001425623.1
Submitted: (Mar 04, 2020)
Evidence details
Comment:
Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards.

Functional evidence

Help
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

Help
Title Author Journal Year Link
Validation of Fanconi anemia complementation Group A assignment using molecular analysis. Moghrabi NN Genetics in medicine : official journal of the American College of Medical Genetics 2009 PMID: 19367192

Text-mined citations for rs1232171121...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 06, 2021