NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) AND Aarskog syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 15, 2005
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:: RCV000011577.8

Allele description [Variation Report for NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)]

NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)

HGVS:

NC_000023.11:g.54467901C>T
NG_008054.1:g.33266G>A
NM_004463.3:c.1223G>AMANE SELECT
NP_004454.2:p.Arg408Gln
NC_000023.10:g.54494334C>T

Protein change:

R408Q; ARG408GLN

Links:

OMIM: 300546.0007; dbSNP: rs137853265

NCBI 1000 Genomes Browser:

rs137853265

Molecular consequence:

NM_004463.3:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Aarskog syndrome (AAS)
Synonyms:: FGDY; Aarskog Scott syndrome; Aarskog disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010589; MedGen: C0175701; Orphanet: 915; OMIM: 305400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031809	OMIM	no assertion criteria provided	Pathogenic (May 15, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031809

OMIM

no assertion criteria provided

Pathogenic
(May 15, 2005)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V.

Am J Med Genet A. 2005 May 15;135(1):99-102.

PubMed [citation]

PMID:: 15809997

Details of each submission

From OMIM, SCV000031809.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 16-year-old boy with attention deficit-hyperactivity disorder, low intelligence quotient and dysmorphic features reminiscent of Aarskog-Scott syndrome (see 305400), Orrico et al. (2005) identified a 1223G-A transition in exon 6 of the FGD1 gene, predicted to cause an arg408-to-gln (R408Q) substitution. Orrico et al. (2005) remarked that the high clinical variability of Aarskog-Scott syndrome patients suggests that analysis of the FGD1 gene should not be restricted to typical cases only, and that additional studies will clarify the influence FGD1 variations on behavioral phenotypes.

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

Last Updated: Feb 20, 2024

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