U.S. flag

An official website of the United States government

NM_001113378.2(FANCI):c.295del (p.His99fs) AND Fanconi anemia

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Sep 20, 2022
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:
RCV001615388.3

Allele description [Variation Report for NM_001113378.2(FANCI):c.295del (p.His99fs)]

NM_001113378.2(FANCI):c.295del (p.His99fs)

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.295del (p.His99fs)
HGVS:
  • NC_000015.10:g.89261591del
  • NG_011736.1:g.22629del
  • NM_001113378.2:c.295delMANE SELECT
  • NM_001376910.1:c.16del
  • NM_001376911.1:c.295del
  • NM_018193.3:c.295del
  • NP_001106849.1:p.His99fs
  • NP_001363839.1:p.His6fs
  • NP_001363840.1:p.His99fs
  • NP_060663.2:p.His99fs
  • LRG_500:g.22629del
  • NC_000015.9:g.89804822del
  • NM_001113378.1:c.295delC
Protein change:
H6fs
Links:
dbSNP: rs759398314
NCBI 1000 Genomes Browser:
rs759398314
Molecular consequence:
  • NM_001113378.2:c.295del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001376910.1:c.16del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001376911.1:c.295del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018193.3:c.295del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Fanconi anemia (FA)
Synonyms:
Fanconi pancytopenia; Fanconi's anemia
Identifiers:
MONDO: MONDO:0019391; MeSH: D005199; MedGen: C0015625; Orphanet: 84; OMIM: PS227650

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
SCV001832607Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenicgermlineclinical testing

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

SCV002598682Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely pathogenic
(Sep 20, 2022)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
South Asiangermlineyes1not 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

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.

George M, Solanki A, Chavan N, Rajendran A, Raj R, Mohan S, Nemani S, Kanvinde S, Munirathnam D, Rao S, Radhakrishnan N, Lashkari HP, Ghildhiyal RG, Manglani M, Shanmukhaiah C, Bhat S, Ramesh S, Cherian A, Junagade P, Vundinti BR.

Hum Mutat. 2021 Dec;42(12):1648-1665. doi: 10.1002/humu.24286. Epub 2021 Oct 5.

PubMed [citation]
PMID:
34585473

Details of each submission

From Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology, SCV001832607.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South Asian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002598682.1

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

Description

Variant summary: FANCI c.295delC (p.His99IlefsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 8e-06 in 251332 control chromosomes. c.295delC has been reported in the literature in individuals affected with Fanconi Anemia (George_2021).This report suggests association of the variant with Fanconi Anemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessment for this variant to ClinVar after 2014 and classified as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Dec 24, 2023