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NM_002693.3(POLG):c.3644-72C>A AND Fanconi anemia

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000280138.3

Allele description [Variation Report for NM_002693.3(POLG):c.3644-72C>A]

NM_002693.3(POLG):c.3644-72C>A

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.3644-72C>A
HGVS:
  • NC_000015.10:g.89316899G>T
  • NG_008218.2:g.22897C>A
  • NG_011736.1:g.77937G>T
  • NM_001113378.2:c.*440G>TMANE SELECT
  • NM_001126131.2:c.3644-72C>A
  • NM_001376910.1:c.*440G>T
  • NM_001376911.1:c.*440G>T
  • NM_002693.3:c.3644-72C>AMANE SELECT
  • NM_018193.3:c.*440G>T
  • LRG_500t1:c.*440G>T
  • LRG_765t1:c.3644-72C>A
  • LRG_500:g.77937G>T
  • LRG_765:g.22897C>A
  • NC_000015.9:g.89860130G>T
  • NM_001113378.1:c.*440G>T
  • NM_002693.2:c.3644-72C>A
Links:
dbSNP: rs1801377
NCBI 1000 Genomes Browser:
rs1801377
Molecular consequence:
  • NM_001113378.2:c.*440G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376910.1:c.*440G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376911.1:c.*440G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_018193.3:c.*440G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126131.2:c.3644-72C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002693.3:c.3644-72C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000394250Illumina Laboratory Services,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000394250.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022

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