NM_001018115.3(FANCD2):c.783+147dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 6, 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:: RCV001689436.1

Allele description [Variation Report for NM_001018115.3(FANCD2):c.783+147dup]

NM_001018115.3(FANCD2):c.783+147dup

Genes:

LOC107303338:3p25 FANCD2 Alu-mediated recombination region [Gene]
FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_001018115.3(FANCD2):c.783+147dup

HGVS:

NC_000003.12:g.10041857dup
NG_007311.1:g.20429dup
NG_046754.1:g.11011dup
NM_001018115.3:c.783+147dupMANE SELECT
NM_001319984.2:c.783+147dup
NM_001374253.1:c.783+147dup
NM_001374254.1:c.783+147dup
NM_033084.6:c.783+147dup
LRG_306:g.20429dup
NC_000003.11:g.10083541dup

Links:

dbSNP: rs201603399

NCBI 1000 Genomes Browser:

rs201603399

Molecular consequence:

NM_001018115.3:c.783+147dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001319984.2:c.783+147dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001374253.1:c.783+147dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001374254.1:c.783+147dup - intron variant - [Sequence Ontology: SO:0001627]
NM_033084.6:c.783+147dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001915108	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Sep 6, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001915108

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Sep 6, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001915108.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine