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NM_000136.3(FANCC):c.1329+306C>T AND Fanconi anemia complementation group A

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000988199.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1329+306C>T]

NM_000136.3(FANCC):c.1329+306C>T

Genes:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.1329+306C>T
HGVS:
  • NC_000009.12:g.95111157G>A
  • NG_011707.1:g.211553C>T
  • NM_000136.3:c.1329+306C>TMANE SELECT
  • NM_001243743.2:c.1329+306C>T
  • NM_001243744.2:c.*39C>T
  • LRG_497:g.211553C>T
  • NC_000009.11:g.97873439G>A
Links:
dbSNP: rs185023012
NCBI 1000 Genomes Browser:
rs185023012
Molecular consequence:
  • NM_001243744.2:c.*39C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000136.3:c.1329+306C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001243743.2:c.1329+306C>T - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137836Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137836.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023