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NM_000135.4(FANCA):c.3934+74C>G AND Fanconi anemia complementation group A

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000664586.1

Allele description [Variation Report for NM_000135.4(FANCA):c.3934+74C>G]

NM_000135.4(FANCA):c.3934+74C>G

Genes:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.3934+74C>G
HGVS:
  • NC_000016.10:g.89739920G>C
  • NG_011706.1:g.81738C>G
  • NM_000135.4:c.3934+74C>GMANE SELECT
  • NM_001113525.2:c.*1674G>CMANE SELECT
  • NM_001286167.3:c.3934+74C>G
  • NM_152287.4:c.*1674G>C
  • LRG_495t1:c.3934+74C>G
  • LRG_495:g.81738C>G
  • NC_000016.9:g.89806328G>C
  • NM_000135.2:c.3934+74C>G
  • NR_110122.2:n.3674G>C
  • NR_110126.2:n.3557G>C
  • NR_110128.2:n.3497G>C
  • NR_110129.2:n.3591G>C
Links:
dbSNP: rs56216970
NCBI 1000 Genomes Browser:
rs56216970
Molecular consequence:
  • NM_001113525.2:c.*1674G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152287.4:c.*1674G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000135.4:c.3934+74C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286167.3:c.3934+74C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_110122.2:n.3674G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110126.2:n.3557G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110128.2:n.3497G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110129.2:n.3591G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Fanconi anemia complementation group A
Synonyms:
Fanconi anemia, group A
Identifiers:
MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000788574Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(Jan 27, 2017) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000788574.2

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

Last Updated: Oct 8, 2024