NM_001113378.2(FANCI):c.3255+6dup AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jan 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000421284.13

Allele description [Variation Report for NM_001113378.2(FANCI):c.3255+6dup]

NM_001113378.2(FANCI):c.3255+6dup

Gene:
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001113378.2(FANCI):c.3255+6dup
HGVS:
  • NC_000015.10:g.89305415dup
  • NG_008218.2:g.34381dup
  • NG_011736.1:g.66453dup
  • NM_001113378.2:c.3255+6dupMANE SELECT
  • NM_001376910.1:c.2976+6dup
  • NM_001376911.1:c.3255+6dup
  • NM_018193.3:c.3075+6dup
  • LRG_500t1:c.3255+6dup
  • LRG_500:g.66453dup
  • LRG_765:g.34381dup
  • NC_000015.9:g.89848645_89848646insT
  • NC_000015.9:g.89848646dup
  • NM_001113378.1:c.3255+6dup
  • NM_001113378.1:c.3255+6dupT
Links:
dbSNP: rs878854178
NCBI 1000 Genomes Browser:
rs878854178
Molecular consequence:
  • NM_001113378.2:c.3255+6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376910.1:c.2976+6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376911.1:c.3255+6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018193.3:c.3075+6dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

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
SCV000511660Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely Benign
(Jan 11, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004041947CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Jan 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000511660.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.000695not providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004041947.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

FANCI: BP4, BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Jul 15, 2024