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NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(4);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000246611.3
Variation ID:
246611
Description:
single nucleotide variant
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NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)

Allele ID
245218
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.2
Genomic location
X: 14845014 (GRCh38) GRCh38 UCSC
X: 14863136 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.14863136A>G
NC_000023.11:g.14845014A>G
NM_001324162.1:c.1769T>C NP_001311091.1:p.Phe590Ser missense
... more HGVS
Protein change
F590S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00053 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00102
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00114
Exome Aggregation Consortium (ExAC) 0.00128
1000 Genomes Project 0.00053
The Genome Aggregation Database (gnomAD) 0.00046
Links
ClinGen: CA10353003
dbSNP: rs142959373
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 26, 2019 RCV000437503.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000292661.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000375315.1
Uncertain significance 1 criteria provided, single submitter Oct 3, 2012 RCV000720996.1
Likely benign 1 criteria provided, single submitter May 28, 2019 RCV000990470.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FANCB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
149 313

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
VACTERL Association with Hydrocephalus
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000481917.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Fanconi Anemia, X-Linked
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000481918.2
Submitted: (Oct 18, 2016)
Evidence details
Likely Benign
(Dec 12, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000510657.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Uncertain significance
(Oct 03, 2012)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000851880.2
Submitted: (Jul 30, 2018)
Evidence details
Benign
(Jan 26, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000294248.5
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group A
Allele origin: unknown
Mendelics
Accession: SCV001141472.1
Submitted: (Oct 22, 2019)
Evidence details

Citations for this variant

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 Jan 09, 2020