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NM_000135.4(FANCA):c.4168-1G>C AND Fanconi anemia complementation group A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001256419.1

Allele description [Variation Report for NM_000135.4(FANCA):c.4168-1G>C]

NM_000135.4(FANCA):c.4168-1G>C

Genes:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.4168-1G>C
HGVS:
  • NC_000016.10:g.89738975C>G
  • NG_011706.1:g.82683G>C
  • NM_000135.4:c.4168-1G>CMANE SELECT
  • NM_001113525.2:c.*729C>GMANE SELECT
  • NM_001286167.3:c.4172-1G>C
  • NM_152287.4:c.*729C>G
  • LRG_495t1:c.4168-1G>C
  • LRG_495:g.82683G>C
  • NC_000016.9:g.89805383C>G
  • NM_000135.2:c.4168-1G>C
  • NR_110122.2:n.2729C>G
  • NR_110126.2:n.2612C>G
  • NR_110128.2:n.2552C>G
  • NR_110129.2:n.2646C>G
Links:
dbSNP: rs2062047006
NCBI 1000 Genomes Browser:
rs2062047006
Molecular consequence:
  • NM_001113525.2:c.*729C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152287.4:c.*729C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_110122.2:n.2729C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110126.2:n.2612C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110128.2:n.2552C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110129.2:n.2646C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000135.4:c.4168-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286167.3:c.4172-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001425868Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Feb 28, 2020) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

Yagasaki H, Hamanoue S, Oda T, Nakahata T, Asano S, Yamashita T.

Hum Mutat. 2004 Dec;24(6):481-90.

PubMed [citation]
PMID:
15523645

Details of each submission

From Leiden Open Variation Database, SCV001425868.1

#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: Sep 1, 2024