NM_000135.4(FANCA):c.4015del (p.Leu1339fs) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Nov 2, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000190642.2

Allele description [Variation Report for NM_000135.4(FANCA):c.4015del (p.Leu1339fs)]

NM_000135.4(FANCA):c.4015del (p.Leu1339fs)

Genes:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
HGVS:
  • NC_000016.10:g.89739285del
  • NG_011706.1:g.82373del
  • NM_000135.4:c.4015delMANE SELECT
  • NM_001113525.2:c.*1039delMANE SELECT
  • NM_001286167.3:c.4015del
  • NM_152287.4:c.*1039del
  • NP_000126.2:p.Leu1339fs
  • NP_001273096.1:p.Leu1339fs
  • LRG_495t1:c.4015del
  • LRG_495:g.82373del
  • NC_000016.9:g.89805693del
  • NC_000016.9:g.89805693del
  • NM_000135.2:c.4015delC
  • NR_110122.2:n.3039del
  • NR_110126.2:n.2922del
  • NR_110128.2:n.2862del
  • NR_110129.2:n.2956del
Protein change:
L1339fs
Links:
dbSNP: rs762902309
NCBI 1000 Genomes Browser:
rs762902309
Molecular consequence:
  • NM_001113525.2:c.*1039del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152287.4:c.*1039del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000135.4:c.4015del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286167.3:c.4015del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_110122.2:n.3039del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110126.2:n.2922del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110128.2:n.2862del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110129.2:n.2956del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000245685Center for Individualized Medicine,Mayo Clinic - Breast Cancer Genome Guided Therapy Study (BEAUTY)criteria provided, single submitter
Likely pathogenic
(Jan 1, 2014)
germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

SCV000486569Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 2, 2016)
unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV001425727Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, et al.

Breast Cancer Res Treat. 2015 Sep;153(2):435-43. doi: 10.1007/s10549-015-3545-6. Epub 2015 Aug 22.

PubMed [citation]
PMID:
26296701
PMCID:
PMC4559569
See all PubMed Citations (3)

Details of each submission

From Center for Individualized Medicine,Mayo Clinic - Breast Cancer Genome Guided Therapy Study (BEAUTY), SCV000245685.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providedbloodnot providednot providednot providednot providednot provided

From Counsyl, SCV000486569.1

#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, SCV001425727.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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

Last Updated: Oct 24, 2021

Support Center