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NM_001281463.1(SMC1A):c.-231C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 28, 2021)
Last evaluated:
Jun 14, 2016
Accession:
VCV000095364.2
Variation ID:
95364
Description:
single nucleotide variant
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NM_001281463.1(SMC1A):c.-231C>T

Allele ID
101263
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53422619 (GRCh38) GRCh38 UCSC
X: 53449568 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_006306.3:c.-19C>T 5 prime UTR
LRG_773t2:c.-19C>T
LRG_773:g.5052C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:53422618:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.39841 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.51629
Trans-Omics for Precision Medicine (TOPMed) 0.42638
The Genome Aggregation Database (gnomAD) 0.45935
The Genome Aggregation Database (gnomAD), exomes 0.52260
1000 Genomes Project 0.39841
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.40604
Links
ClinGen: CA148479
dbSNP: rs1264011
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Aug 18, 2014 RCV000081383.5
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000260444.2
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001711246.1
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000311446.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cornelia de Lange Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000482665.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 18, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113314.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001943941.1
Submitted: (Sep 28, 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=SMC1A - - - -

Text-mined citations for rs1264011...

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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 02, 2021