NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Feb 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672696.1

Allele description [Variation Report for NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer)]

NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer)

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer)
HGVS:
  • NC_000016.10:g.89765037_89765038del
  • NG_011706.1:g.56620_56621del
  • NM_000135.4:c.2630_2631delMANE SELECT
  • NM_001286167.3:c.2630_2631del
  • NP_000126.2:p.Phe876_Ser877insTer
  • NP_001273096.1:p.Phe876_Ser877insTer
  • LRG_495t1:c.2630_2631del
  • LRG_495:g.56620_56621del
  • NC_000016.9:g.89831445_89831446del
  • NM_000135.2:c.2630_2631delCA
Links:
dbSNP: rs1555545553
NCBI 1000 Genomes Browser:
rs1555545553
Molecular consequence:
  • NM_000135.4:c.2630_2631del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286167.3:c.2630_2631del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000797830Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 13, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.

Solanki A, Mohanty P, Shukla P, Rao A, Ghosh K, Vundinti BR.

PLoS One. 2016;11(1):e0147016. doi: 10.1371/journal.pone.0147016.

PubMed [citation]
PMID:
26799702
PMCID:
PMC4723128

Details of each submission

From Counsyl, SCV000797830.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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