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NM_004463.3(FGD1):c.*36C>T AND Aarskog syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 10, 2021
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:
RCV001701497.2

Allele description [Variation Report for NM_004463.3(FGD1):c.*36C>T]

NM_004463.3(FGD1):c.*36C>T

Genes:
FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
TSR2:TSR2 ribosome maturation factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_004463.3(FGD1):c.*36C>T
HGVS:
  • NC_000023.11:g.54446073G>A
  • NG_008054.1:g.55094C>T
  • NG_051993.1:g.10699G>A
  • NM_001346789.2:c.*1523G>A
  • NM_001346790.2:c.*1523G>A
  • NM_001346791.2:c.*1523G>A
  • NM_001346792.2:c.*1523G>A
  • NM_004463.3:c.*36C>TMANE SELECT
  • NM_058163.3:c.*1523G>AMANE SELECT
  • NC_000023.10:g.54472506G>A
  • NM_004463.2:c.*36C>T
Links:
dbSNP: rs2230265
NCBI 1000 Genomes Browser:
rs2230265
Molecular consequence:
  • NM_001346789.2:c.*1523G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001346790.2:c.*1523G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001346791.2:c.*1523G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001346792.2:c.*1523G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004463.3:c.*36C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_058163.3:c.*1523G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV001933433Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV001933433.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024