NM_004463.2(FGD1):c.2135dupC (p.Pro713Thrfs) AND not provided

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 9, 2013
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:: RCV000081093.3

Allele description

NM_004463.2(FGD1):c.2135dupC (p.Pro713Thrfs)

Gene:

FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_004463.2(FGD1):c.2135dupC (p.Pro713Thrfs)

HGVS:

NC_000023.11:g.54449672dupG
NG_008054.1:g.51495dupC
NM_004463.2:c.2135dupC
NP_004454.2:p.Pro713Thrfs
NC_000023.10:g.54476105dupG

Links:

dbSNP: rs398124162

NCBI 1000 Genomes Browser:

rs398124162

Molecular consequence:

NM_004463.2:c.2135dupC - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000113001	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	no assertion criteria provided	Pathogenic (Jan 9, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000113001

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

no assertion criteria provided

Pathogenic
(Jan 9, 2013)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	744	not provided	clinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]

PMID:: 23757202

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000113001.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing (GTR000501493)	PubMed (1)
2	not provided	0	not provided	not provided	clinical testing (GTR000503137)	PubMed (1)
3	not provided	0	not provided	not provided	clinical testing (GTR000503138)	PubMed (1)
4	not provided	0	not provided	not provided	clinical testing (GTR000503195)	PubMed (1)
5	not provided	0	not provided	not provided	clinical testing	PubMed (1)
6	not provided	0	not provided	not provided	clinical testing	PubMed (1)
7	not provided	0	not provided	not provided	clinical testing	PubMed (1)
8	not provided	0	not provided	not provided	clinical testing	PubMed (1)
9	not provided	0	not provided	not provided	clinical testing	PubMed (1)
10	not provided	0	not provided	not provided	clinical testing	PubMed (1)
11	not provided	0	not provided	not provided	clinical testing	PubMed (1)
12	not provided	0	not provided	not provided	clinical testing	PubMed (1)
13	not provided	0	not provided	not provided	clinical testing	PubMed (1)
14	not provided	0	not provided	not provided	clinical testing	PubMed (1)
15	not provided	0	not provided	not provided	clinical testing	PubMed (1)
16	not provided	0	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	152	not provided	not provided	(GTR000501493)	2	not provided	not provided	not provided
2	germline	unknown	22	not provided	not provided	(GTR000503137)	0	not provided	not provided	not provided
3	germline	unknown	3	not provided	not provided	(GTR000503138)	0	not provided	not provided	not provided
4	germline	unknown	53	not provided	not provided	(GTR000503195)	0	not provided	not provided	not provided
5	germline	unknown	1	not provided	not provided		0	not provided	not provided	not provided
6	germline	unknown	15	not provided	not provided		0	not provided	not provided	not provided
7	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
8	germline	unknown	11	not provided	not provided		0	not provided	not provided	not provided
9	germline	unknown	37	not provided	not provided		0	not provided	not provided	not provided
10	germline	unknown	14	not provided	not provided		0	not provided	not provided	not provided
11	germline	unknown	2	not provided	not provided		0	not provided	not provided	not provided
12	germline	unknown	35	not provided	not provided		0	not provided	not provided	not provided
13	germline	unknown	7	not provided	not provided		0	not provided	not provided	not provided
14	germline	unknown	105	not provided	not provided		0	not provided	not provided	not provided
15	germline	unknown	148	not provided	not provided		0	not provided	not provided	not provided
16	germline	unknown	139	not provided	not provided		0	not provided	not provided	not provided

Last Updated: Feb 13, 2018

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