NM_000135.4(FANCA):c.710-1G>C AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Mar 27, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673656.1

Allele description [Variation Report for NM_000135.4(FANCA):c.710-1G>C]

NM_000135.4(FANCA):c.710-1G>C

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.710-1G>C
HGVS:
  • NC_000016.10:g.89803342C>G
  • NG_011706.1:g.18316G>C
  • NM_000135.4:c.710-1G>CMANE SELECT
  • NM_001018112.3:c.710-1G>C
  • NM_001286167.3:c.710-1G>C
  • NM_001351830.2:c.614-1G>C
  • LRG_495t1:c.710-1G>C
  • LRG_495:g.18316G>C
  • NC_000016.9:g.89869750C>G
  • NM_000135.2:c.710-1G>C
Links:
dbSNP: rs1388128874
NCBI 1000 Genomes Browser:
rs1388128874
Molecular consequence:
  • NM_000135.4:c.710-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001018112.3:c.710-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286167.3:c.710-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001351830.2:c.614-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000798883Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 27, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000798883.1

#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: Nov 27, 2021

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