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NM_001164277.2(SLC37A4):c.381+8C>T

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 13, 2020
Accession:
VCV000553291.2
Variation ID:
553291
Description:
single nucleotide variant
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NM_001164277.2(SLC37A4):c.381+8C>T

Allele ID
546337
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119028186 (GRCh38) GRCh38 UCSC
11: 118898896 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_187t1:c.381+8C>T
NC_000011.9:g.118898896G>A
LRG_187:g.7721C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:119028185:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00003
Links
dbSNP: rs782284449
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 13, 2020 RCV000668704.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC37A4 - - GRCh38
GRCh38
GRCh37
686 719

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 23, 2017)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: unknown
Counsyl
Accession: SCV000793348.1
Submitted: (Jul 10, 2018)
Evidence details
Likely benign
(Apr 13, 2020)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Invitae
Accession: SCV001615422.1
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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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 rs782284449...

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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 Nov 27, 2021