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NM_000135.4(FANCA):c.2602-13CT[2] AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 16, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001800586.6

Allele description [Variation Report for NM_000135.4(FANCA):c.2602-13CT[2]]

NM_000135.4(FANCA):c.2602-13CT[2]

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.2602-13CT[2]
HGVS:
  • NC_000016.10:g.89765074AG[2]
  • NG_011706.1:g.56579CT[2]
  • NM_000135.4:c.2602-13CT[2]MANE SELECT
  • NM_001286167.3:c.2602-13CT[2]
  • LRG_495t1:c.2602-9_2602-8del
  • LRG_495:g.56579CT[2]
  • NC_000016.9:g.89831482AG[2]
  • NC_000016.9:g.89831482_89831483del
  • NM_000135.2:c.2602-9_2602-8del
  • NM_000135.2:c.2602-9_2602-8delCT
  • NM_000135.3:c.2602-9_2602-8del
  • NM_000135.4:c.2602-9_2602-8delCTMANE SELECT
Links:
dbSNP: rs577636020
NCBI 1000 Genomes Browser:
rs577636020
Molecular consequence:
  • NM_000135.4:c.2602-13CT[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286167.3:c.2602-13CT[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002065233Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Uncertain significance
(Dec 16, 2019) 		germlineclinical testing

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

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genetic Services Laboratory,University of Chicago, SCV002065233.1

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

Description

DNA sequence analysis of the FANCA gene demonstrated a sequence change in intron 27, c.2602-9_2602-8del. This sequence change has been described in the gnomAD database with a frequency of 0.17% in European populations (dbSNP rs577636020). This sequence change, in addition to a large pathogenic deletion, has been identified in a Fanconi anemia family. RNA analysis of these individuals demonstrated skipping of exons 28-30 in the presence of this sequence change (PMID: 29098742). This sequence change is also predicted to have a deleterious effect on splicing based on in silico splice prediction programs. The functional significance of this sequence change is not known at present.

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

Last Updated: Jan 21, 2023

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