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NM_001018115.3(FANCD2):c.2605+1G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 5, 2024
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:
RCV000255506.5

Allele description [Variation Report for NM_001018115.3(FANCD2):c.2605+1G>A]

NM_001018115.3(FANCD2):c.2605+1G>A

Genes:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
LOC107303338:3p25 FANCD2 Alu-mediated recombination region [Gene]
FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_001018115.3(FANCD2):c.2605+1G>A
HGVS:
  • NC_000003.12:g.10072982G>A
  • NG_007311.1:g.51554G>A
  • NG_046754.1:g.42136G>A
  • NM_001018115.3:c.2605+1G>AMANE SELECT
  • NM_001319984.2:c.2605+1G>A
  • NM_001374253.1:c.2494+1G>A
  • NM_001374254.1:c.2605+1G>A
  • NM_033084.6:c.2605+1G>A
  • LRG_306t2:c.2605+1G>A
  • LRG_306:g.51554G>A
  • NC_000003.11:g.10114666G>A
  • NM_033084.3:c.2605+1G>A
  • NM_033084.5:c.2605+1G>A
Links:
dbSNP: rs142365855
NCBI 1000 Genomes Browser:
rs142365855
Molecular consequence:
  • NM_001018115.3:c.2605+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001319984.2:c.2605+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374253.1:c.2494+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374254.1:c.2605+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033084.6:c.2605+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000321626GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 5, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000321626.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Observed in homozygous state in a male patient with ambiguous genitalia, iron deficiency anemia, and failure to thrive, with no other features of Fanconi anemia (PMID: 34327028); Previously reported in an individual with growth failure; however, additional clinical and segregation data were not provided (PMID: 26633542); This variant is associated with the following publications: (PMID: 34327028, 26633542)

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

Last Updated: Oct 26, 2024