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NM_007013.4(WWP1):c.1879A>T (p.Met627Leu) AND Wolff-Parkinson-White pattern

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV000656199.1

Allele description [Variation Report for NM_007013.4(WWP1):c.1879A>T (p.Met627Leu)]

NM_007013.4(WWP1):c.1879A>T (p.Met627Leu)

Gene:
WWP1:WW domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_007013.4(WWP1):c.1879A>T (p.Met627Leu)
HGVS:
  • NC_000008.11:g.86442659A>T
  • NM_007013.4:c.1879A>TMANE SELECT
  • NP_008944.1:p.Met627Leu
  • NC_000008.10:g.87454888A>T
  • NM_007013.3:c.1879A>T
Protein change:
M627L
Links:
dbSNP: rs773370868
NCBI 1000 Genomes Browser:
rs773370868
Molecular consequence:
  • NM_007013.4:c.1879A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Wolff-Parkinson-White pattern
Synonyms:
WPW syndrome; Auriculoventricular accessory pathway syndrome; False bundle branch block syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008685; MedGen: C0043202; OMIM: 194200; Human Phenotype Ontology: HP:0001716

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678393Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome
no assertion criteria provided
Uncertain significance
(Jul 14, 2017) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome, SCV000678393.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided

Description

This variant was identified in an individual with Wolff-Parkinson-White syndrome

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2023