NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Nov 12, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001255021.1

Allele description [Variation Report for NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)]

NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)

Genes:
WDFY3:WD repeat and FYVE domain containing 3 [Gene - OMIM - HGNC]
WDFY3-AS1:WDFY3 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.23
Genomic location:
Preferred name:
NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)
HGVS:
  • NC_000004.12:g.84808416G>A
  • NG_046917.1:g.162976C>T
  • NM_014991.6:c.2347C>TMANE SELECT
  • NP_055806.2:p.Arg783Cys
  • NC_000004.11:g.85729569G>A
  • NM_014991.4:c.2347C>T
Protein change:
R783C
Molecular consequence:
  • NM_014991.6:c.2347C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autistic disorder of childhood onset (AUTS)
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Focal seizures
Synonyms:
Partial seizures
Identifiers:
MedGen: C0751495; Human Phenotype Ontology: HP:0007359
Name:
Intellectual disability
Synonyms:
Dull intelligence; Low intelligence; Mental deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001071; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001431111New York Genome Centerno assertion criteria providedUncertain significance
(Nov 12, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV001431111.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 24, 2021

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