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NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) AND Fanconi anemia complementation group I

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Mar 26, 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:
RCV001194983.4

Allele description [Variation Report for NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)]

NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)

Gene:
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
HGVS:
  • NC_000015.10:g.89306150del
  • NC_000015.9:g.89849380del
  • NG_008218.2:g.33647del
  • NG_011736.1:g.67188del
  • NM_001113378.2:c.3493delMANE SELECT
  • NM_001376910.1:c.3214del
  • NM_001376911.1:c.3493del
  • NM_018193.3:c.3313del
  • NP_001106849.1:p.Asp1165fs
  • NP_001106849.1:p.Asp1165fs
  • NP_001363839.1:p.Asp1072fs
  • NP_001363840.1:p.Asp1165fs
  • NP_060663.2:p.Asp1105fs
  • LRG_500t1:c.3493del
  • LRG_500:g.67188del
  • LRG_500p1:p.Asp1165fs
  • LRG_765:g.33647del
  • NC_000015.9:g.89849380del
  • NC_000015.9:g.89849381_89849381del
  • NC_000015.9:g.89849381del
  • NM_001113378.1:c.3493del
  • NM_001113378.1:c.3493delG
Protein change:
D1072fs
Links:
dbSNP: rs758597713
NCBI 1000 Genomes Browser:
rs758597713
Molecular consequence:
  • NM_001113378.2:c.3493del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001376910.1:c.3214del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001376911.1:c.3493del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018193.3:c.3313del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Fanconi anemia complementation group I (FANCI)
Identifiers:
MONDO: MONDO:0012186; MedGen: C1836861; Orphanet: 84; OMIM: 609053

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001364857Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Oct 4, 2013)
germlinecuration

SCV002811465Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jul 23, 2021)
unknownclinical testing

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

SCV004197156Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 26, 2024)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

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 Leiden Open Variation Database, SCV001364857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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

From Fulgent Genetics, Fulgent Genetics, SCV002811465.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004197156.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024