NM_000141.5(FGFR2):c.376+259_376+261dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 13, 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:: RCV001552125.2

Allele description [Variation Report for NM_000141.5(FGFR2):c.376+259_376+261dup]

NM_000141.5(FGFR2):c.376+259_376+261dup

Gene:

FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q26.13

Genomic location:

Preferred name:

NM_000141.5(FGFR2):c.376+259_376+261dup

HGVS:

NC_000010.11:g.121565192_121565194dup
NG_012449.2:g.38280_38282dup
NM_000141.5:c.376+259_376+261dupMANE SELECT
NM_001144913.1:c.376+259_376+261dup
NM_001144914.1:c.376+259_376+261dup
NM_001144915.2:c.110-600_110-598dup
NM_001144916.2:c.110-13720_110-13718dup
NM_001144917.2:c.376+259_376+261dup
NM_001144918.2:c.110-13720_110-13718dup
NM_001144919.2:c.110-600_110-598dup
NM_001320658.2:c.376+259_376+261dup
NM_022970.4:c.376+259_376+261dup
NM_023029.2:c.110-600_110-598dup
LRG_994:g.38280_38282dup
NC_000010.10:g.123324706_123324708dup

Links:

dbSNP: rs71865754

NCBI 1000 Genomes Browser:

rs71865754

Molecular consequence:

NM_000141.5:c.376+259_376+261dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001144913.1:c.376+259_376+261dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001144914.1:c.376+259_376+261dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001144915.2:c.110-600_110-598dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001144916.2:c.110-13720_110-13718dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001144917.2:c.376+259_376+261dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001144918.2:c.110-13720_110-13718dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001144919.2:c.110-600_110-598dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001320658.2:c.376+259_376+261dup - intron variant - [Sequence Ontology: SO:0001627]
NM_022970.4:c.376+259_376+261dup - intron variant - [Sequence Ontology: SO:0001627]
NM_023029.2:c.110-600_110-598dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001772767	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 13, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001772767

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 13, 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, SCV001772767.1

#	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

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