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NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) 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:
RCV000656168.1

Allele description [Variation Report for NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)]

NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)

Gene:
LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)
HGVS:
  • NC_000006.12:g.112144889G>A
  • NG_008209.1:g.114738C>T
  • NM_001105206.3:c.2398C>TMANE SELECT
  • NM_001105207.3:c.2377C>T
  • NM_002290.5:c.2377C>T
  • NP_001098676.2:p.Arg800Cys
  • NP_001098677.2:p.Arg793Cys
  • NP_002281.3:p.Arg793Cys
  • LRG_433t2:c.2377C>T
  • LRG_433:g.114738C>T
  • NC_000006.11:g.112466091G>A
  • NM_001105206.2:c.2398C>T
  • NM_001105207.2:c.2377C>T
  • NM_002290.3:c.2377C>T
  • NM_002290.4:c.2377C>T
Protein change:
R793C
Links:
dbSNP: rs202184174
NCBI 1000 Genomes Browser:
rs202184174
Molecular consequence:
  • NM_001105206.3:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001105207.3:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002290.5:c.2377C>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
SCV000678362Lupski 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) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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, SCV000678362.1

#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
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024