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NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 15, 2015)
Last evaluated:
Feb 8, 2013
Accession:
VCV000212266.1
Variation ID:
212266
Description:
3bp deletion
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NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)

Allele ID
209113
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53405255-53405257 (GRCh38) GRCh38 UCSC
X: 53432187-53432189 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.53432187_53432189del
NC_000023.11:g.53405255_53405257del
NG_006988.2:g.22414_22416del
... more HGVS
Protein change
E662del, E684del
Other names
-
Canonical SPDI
NC_000023.11:53405254:TCT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA277080
dbSNP: rs797045992
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 8, 2013 RCV000193116.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMC1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
453 610

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 08, 2013)
criteria provided, single submitter
Method: clinical testing
Cornelia de Lange syndrome 2
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000248983.1
Submitted: (Sep 15, 2015)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs797045992...

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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 Oct 24, 2021