U.S. flag

An official website of the United States government

NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) AND Fanconi anemia complementation group I

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Oct 17, 2023
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:
RCV002478726.2

Allele description [Variation Report for NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)]

NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)

Gene:
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
HGVS:
  • NC_000015.10:g.89307645GT[1]
  • NG_008218.2:g.32149CA[1]
  • NG_011736.1:g.68683GT[1]
  • NM_001113378.2:c.3626_3627delMANE SELECT
  • NM_001376910.1:c.3347_3348del
  • NM_001376911.1:c.3626_3627del
  • NM_018193.3:c.3446_3447del
  • NP_001106849.1:p.Cys1209fs
  • NP_001363839.1:p.Cys1116fs
  • NP_001363840.1:p.Cys1209fs
  • NP_060663.2:p.Cys1149fs
  • LRG_500:g.68683GT[1]
  • LRG_765:g.32149CA[1]
  • NC_000015.9:g.89850875_89850876del
  • NC_000015.9:g.89850876GT[1]
  • NM_001113378.1:c.3623_3624delTG
  • NM_001113378.1:c.3626_3627delGT
Protein change:
C1116fs
Links:
dbSNP: rs770318990
NCBI 1000 Genomes Browser:
rs770318990
Molecular consequence:
  • NM_001113378.2:c.3626_3627del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001376910.1:c.3347_3348del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001376911.1:c.3626_3627del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018193.3:c.3446_3447del - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002782550Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(May 4, 2022)
unknownclinical testing

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

SCV004199193Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Oct 17, 2023)
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

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 Fulgent Genetics, Fulgent Genetics, SCV002782550.1

#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, SCV004199193.1

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

Last Updated: Feb 28, 2024