NM_000135.4(FANCA):c.989_995del (p.His330fs) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: May 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667063.1

Allele description [Variation Report for NM_000135.4(FANCA):c.989_995del (p.His330fs)]

NM_000135.4(FANCA):c.989_995del (p.His330fs)

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.989_995del (p.His330fs)
HGVS:
  • NC_000016.10:g.89795918_89795924del
  • NG_011706.1:g.25735_25741del
  • NM_000135.4:c.989_995delMANE SELECT
  • NM_001286167.3:c.989_995del
  • NP_000126.2:p.His330fs
  • NP_001273096.1:p.His330fs
  • LRG_495t1:c.989_995del
  • LRG_495t1:c.989_995del7
  • LRG_495:g.25735_25741del
  • NC_000016.9:g.89862326_89862332del
  • NM_000135.2:c.989_995del7
Protein change:
H330fs
Links:
dbSNP: rs1555564451
NCBI 1000 Genomes Browser:
rs1555564451
Molecular consequence:
  • NM_000135.4:c.989_995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286167.3:c.989_995del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000791456Counsylcriteria provided, single submitter
Likely pathogenic
(May 26, 2017)
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

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

Zheng Z, Geng J, Yao RE, Li C, Ying D, Shen Y, Ying L, Yu Y, Fu Q.

Gene. 2013 Nov 10;530(2):295-300. doi: 10.1016/j.gene.2013.08.031. Epub 2013 Aug 22.

PubMed [citation]
PMID:
23973728

Details of each submission

From Counsyl, SCV000791456.1

#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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