NM_000135.4(FANCA):c.3696del (p.Phe1232fs) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Sep 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000669694.2

Allele description [Variation Report for NM_000135.4(FANCA):c.3696del (p.Phe1232fs)]

NM_000135.4(FANCA):c.3696del (p.Phe1232fs)

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.3696del (p.Phe1232fs)
HGVS:
  • NC_000016.10:g.89742871del
  • NG_011706.1:g.78789del
  • NM_000135.4:c.3696delMANE SELECT
  • NM_001286167.3:c.3696del
  • NP_000126.2:p.Phe1232fs
  • NP_001273096.1:p.Phe1232fs
  • LRG_495t1:c.3696del
  • LRG_495:g.78789del
  • NC_000016.9:g.89809277del
  • NC_000016.9:g.89809279del
  • NM_000135.2:c.3696del
  • NM_000135.2:c.3696delT
Protein change:
F1232fs
Links:
dbSNP: rs1555535527
NCBI 1000 Genomes Browser:
rs1555535527
Molecular consequence:
  • NM_000135.4:c.3696del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286167.3:c.3696del - 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
SCV000794471Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 27, 2017)
unknownclinical testing

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

Citation Link,

SCV001425858Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

Summary from all submissions

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

Citations

PubMed

Profiling Fanconi Anemia Gene Mutations among Iranian Patients.

Esmail Nia G, Fadaee M, Royer R, Najmabadi H, Akbari MR.

Arch Iran Med. 2016 Apr;19(4):236-40. doi: 0161904/AIM.003.

PubMed [citation]
PMID:
27041517

Details of each submission

From Counsyl, SCV000794471.1

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

From Leiden Open Variation Database, SCV001425858.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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