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NM_004463.3(FGD1):c.1422del (p.Phe474fs) AND Aarskog syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 8, 2017
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:
RCV001353078.1

Allele description [Variation Report for NM_004463.3(FGD1):c.1422del (p.Phe474fs)]

NM_004463.3(FGD1):c.1422del (p.Phe474fs)

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.1422del (p.Phe474fs)
HGVS:
  • NC_000023.11:g.54465773del
  • NG_008054.1:g.35396del
  • NM_004463.3:c.1422delMANE SELECT
  • NP_004454.2:p.Phe474fs
  • NC_000023.10:g.54492206del
  • NM_004463.2:c.1422del
Protein change:
F474fs
Links:
dbSNP: rs2147432826
NCBI 1000 Genomes Browser:
rs2147432826
Molecular consequence:
  • NM_004463.3:c.1422del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001438013Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Pathogenic
(May 8, 2017) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001438013.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2023