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NM_003073.5(SMARCB1):c.362+8G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 9, 2019
Accession:
VCV000167703.4
Variation ID:
167703
Description:
single nucleotide variant
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NM_003073.5(SMARCB1):c.362+8G>A

Allele ID
178081
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.23
Genomic location
22: 23793696 (GRCh38) GRCh38 UCSC
22: 24135883 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.24135883G>A
NC_000022.11:g.23793696G>A
NM_003073.5:c.362+8G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:23793695:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA234956
dbSNP: rs727504162
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 9, 2019 RCV000153973.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMARCB1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
506 624

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 12, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000203598.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Oct 09, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001098081.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SMARCB1 - - - -

Text-mined citations for rs727504162...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 06, 2021