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NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jul 1, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000584965.22

Allele description [Variation Report for NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)]

NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)

Gene:
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
Other names:
NM_001113378.1:c.3853C>T
HGVS:
  • NC_000015.10:g.89315318C>T
  • NG_008218.2:g.24478G>A
  • NG_011736.1:g.76356C>T
  • NM_001113378.2:c.3853C>TMANE SELECT
  • NM_001376910.1:c.3574C>T
  • NM_001376911.1:c.3853C>T
  • NM_018193.3:c.3673C>T
  • NP_001106849.1:p.Arg1285Ter
  • NP_001363839.1:p.Arg1192Ter
  • NP_001363840.1:p.Arg1285Ter
  • NP_060663.2:p.Arg1225Ter
  • LRG_500:g.76356C>T
  • LRG_765:g.24478G>A
  • NC_000015.9:g.89858549C>T
Protein change:
R1192*; ARG1285TER
Links:
OMIM: 611360.0003; dbSNP: rs121918164
NCBI 1000 Genomes Browser:
rs121918164
Molecular consequence:
  • NM_001113378.2:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001376910.1:c.3574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001376911.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018193.3:c.3673C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000692820CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Pathogenic
(Jul 1, 2017)
germlineclinical testing

Citation Link,

SCV001744607Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Pathogenicgermlineclinical testing

SCV001971033Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Pathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000692820.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001744607.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001971033.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024