NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Dec 19, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000178387.5

Allele description [Variation Report for NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)]

NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)

Gene:

FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p11.21

Genomic location:

Preferred name:

NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)

HGVS:

NC_000012.12:g.32582302C>G
NG_008626.2:g.187774C>G
NM_001304481.2:c.690C>G
NM_001304483.2:c.-410C>G
NM_001304484.2:c.-717C>G
NM_001330373.2:c.156C>G
NM_001330374.2:c.156C>G
NM_001370297.1:c.49-16195C>G
NM_001370298.3:c.846C>GMANE SELECT
NM_001384126.1:c.846C>G
NM_001384127.1:c.435C>G
NM_001384128.1:c.435C>G
NM_001384130.1:c.156C>G
NM_001384131.1:c.435C>G
NM_001384132.1:c.435C>G
NM_001385118.1:c.435C>G
NM_139241.3:c.435C>G
NP_001291410.1:p.Asp230Glu
NP_001291410.1:p.Asp230Glu
NP_001317302.1:p.Asp52Glu
NP_001317303.1:p.Asp52Glu
NP_001357227.2:p.Asp282Glu
NP_001371055.1:p.Asp282Glu
NP_001371056.1:p.Asp145Glu
NP_001371057.1:p.Asp145Glu
NP_001371059.1:p.Asp52Glu
NP_001371060.1:p.Asp145Glu
NP_001371061.1:p.Asp145Glu
NP_001372047.1:p.Asp145Glu
NP_640334.2:p.Asp145Glu
LRG_240t1:c.435C>G
LRG_240t2:c.690C>G
LRG_240:g.187774C>G
LRG_240p1:p.Asp145Glu
LRG_240p2:p.Asp230Glu
NC_000012.11:g.32735236C>G
NM_001304481.1:c.690C>G
NM_139241.2:c.435C>G
NR_168884.1:n.672C>G

Protein change:

D145E

Links:

dbSNP: rs904582

NCBI 1000 Genomes Browser:

rs904582

Molecular consequence:

NM_001304483.2:c.-410C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001304484.2:c.-717C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001370297.1:c.49-16195C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001304481.2:c.690C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330373.2:c.156C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330374.2:c.156C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370298.3:c.846C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001384126.1:c.846C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001384127.1:c.435C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001384128.1:c.435C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001384130.1:c.156C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001384131.1:c.435C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001384132.1:c.435C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385118.1:c.435C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139241.3:c.435C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_168884.1:n.672C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000230456	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (May 26, 2015)	germline	clinical testing	Citation Link,
SCV000522655	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Dec 19, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000230456

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(May 26, 2015)

germline

clinical testing

Citation Link,

SCV000522655

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Dec 19, 2016)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000230456.5

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

From GeneDx, SCV000522655.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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: Oct 13, 2024

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