NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) AND Aarskog syndrome

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Aug 11, 2021
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:: RCV000608756.11

Allele description [Variation Report for NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)]

NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)

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.395G>A (p.Arg132Gln)

HGVS:

NC_000023.11:g.54471400C>T
NG_008054.1:g.29767G>A
NM_004463.3:c.395G>AMANE SELECT
NP_004454.2:p.Arg132Gln
NP_004454.2:p.Arg132Gln
NC_000023.10:g.54497833C>T
NM_004463.2:c.395G>A

Protein change:

R132Q

Links:

dbSNP: rs145644275

NCBI 1000 Genomes Browser:

rs145644275

Molecular consequence:

NM_004463.3:c.395G>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

Recent activity

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ras and Rab interactor 2 isoform X4 [Homo sapiens]
ras and Rab interactor 2 isoform X4 [Homo sapiens]
gi|2462580560|ref|XP_054179514.1|

Protein
Senecio serra internal transcribed spacer 1, partial sequence
Senecio serra internal transcribed spacer 1, partial sequence
gi|8132478|gb|AF161641.1|

Nucleotide
Chain A, HUMAN REGULATED UPON ACTIVATION NORMAL T-CELL EXPRESSED AND SECRETED
Chain A, HUMAN REGULATED UPON ACTIVATION NORMAL T-CELL EXPRESSED AND SECRETED
gi|2200752795|pdb|1HRJ|A

Protein
OMIM Links for Nucleotide (Select 1890346383) (6)
OMIM

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000734790	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001141887	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV002797439	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 11, 2021)	unknown	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

SCV000734790

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

SCV001141887

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely benign
(May 28, 2019)

unknown

clinical testing

Citation Link,

SCV002797439

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Aug 11, 2021)

unknown

clinical testing

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

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734790.1

#	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

From Mendelics, SCV001141887.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002797439.1

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

Last Updated: Nov 10, 2024

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