NM_004463.3(FGD1):c.527del (p.Pro176fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 2017
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:: RCV000624698.3

Allele description [Variation Report for NM_004463.3(FGD1):c.527del (p.Pro176fs)]

NM_004463.3(FGD1):c.527del (p.Pro176fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_004463.3(FGD1):c.527del (p.Pro176fs)

HGVS:

NC_000023.11:g.54470722del
NG_008054.1:g.30452del
NM_004463.3:c.527delMANE SELECT
NP_004454.2:p.Pro176fs
NC_000023.10:g.54497148del
NC_000023.10:g.54497155del
NM_004463.2:c.527del
NM_004463.2:c.527delC

Protein change:

P176fs

Links:

dbSNP: rs756586058

NCBI 1000 Genomes Browser:

rs756586058

Molecular consequence:

NM_004463.3:c.527del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741314	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 9, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741314

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 9, 2017)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000741314.4

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

Description

The c.527delC pathogenic mutation, located in coding exon 3 of the FGD1 gene, results from a deletion of one nucleotide at nucleotide position 527, causing a translational frameshift with a predicted alternate stop codon (p.P176Hfs*39). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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