NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Mar 12, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000507447.1

Allele description [Variation Report for NM_003073.5(SMARCB1):c.267C>T (p.Thr89=)]

NM_003073.5(SMARCB1):c.267C>T (p.Thr89=)

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.267C>T (p.Thr89=)
HGVS:
  • NC_000022.11:g.23793593C>T
  • NG_009303.1:g.11631C>T
  • NM_001007468.3:c.240C>T
  • NM_001317946.2:c.240C>T
  • NM_001362877.2:c.267C>T
  • NM_003073.5:c.267C>TMANE SELECT
  • NP_001007469.1:p.Thr80=
  • NP_001304875.1:p.Thr80=
  • NP_001349806.1:p.Thr89=
  • NP_003064.2:p.Thr89=
  • LRG_520t1:c.267C>T
  • LRG_520:g.11631C>T
  • NC_000022.10:g.24135780C>T
  • NM_003073.3:c.267C>T
Links:
dbSNP: rs141275968
NCBI 1000 Genomes Browser:
rs141275968
Molecular consequence:
  • NM_001007468.3:c.240C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001317946.2:c.240C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001362877.2:c.267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003073.5:c.267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000605225ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Mar 14, 2017)
germlineclinical testing

Citation Link,

SCV000859970EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Mar 12, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000605225.1

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000859970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Jun 14, 2021

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