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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

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

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

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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