NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) AND Schwannomatosis 1

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000785603.1

Allele description [Variation Report for NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)]

NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)

Gene:
SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.23
Genomic location:
Preferred name:
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)
HGVS:
  • NC_000022.11:g.23791820G>T
  • NG_009303.1:g.9858G>T
  • NM_001007468.3:c.158G>T
  • NM_001317946.2:c.158G>T
  • NM_001362877.2:c.158G>T
  • NM_003073.5:c.158G>TMANE SELECT
  • NP_001007469.1:p.Arg53Leu
  • NP_001304875.1:p.Arg53Leu
  • NP_001349806.1:p.Arg53Leu
  • NP_003064.2:p.Arg53Leu
  • LRG_520t1:c.158G>T
  • LRG_520:g.9858G>T
  • NC_000022.10:g.24134007G>T
  • NM_001007468.2:c.158G>T
  • NM_003073.3:c.158G>T
Protein change:
R53L
Links:
dbSNP: rs779769475
NCBI 1000 Genomes Browser:
rs779769475
Molecular consequence:
  • NM_001007468.3:c.158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317946.2:c.158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362877.2:c.158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003073.5:c.158G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Schwannomatosis 1 (SWNTS1)
Synonyms:
Neurilemmomatosis congenital cutaneous
Identifiers:
MONDO: MONDO:0024517; MedGen: C4048809; Orphanet: 93921; OMIM: 162091

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000924182Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins Universitycriteria provided, single submitter
Uncertain significancegermlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes32not providednot providedyesresearch

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 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University, SCV000924182.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not provided2not provided

Last Updated: Apr 12, 2021

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