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NM_000152.5(GAA):c.1755-18T>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Mar 6, 2020)
Last evaluated:
Aug 22, 2019
Accession:
VCV000380511.2
Variation ID:
380511
Description:
single nucleotide variant
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NM_000152.5(GAA):c.1755-18T>C

Allele ID
378828
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80112560 (GRCh38) GRCh38 UCSC
17: 78086359 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78086359T>C
NC_000017.11:g.80112560T>C
NM_000152.5:c.1755-18T>C MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:80112559:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00064
Trans-Omics for Precision Medicine (TOPMed) 0.00081
The Genome Aggregation Database (gnomAD) 0.00070
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00085
Links
ClinGen: CA8815463
dbSNP: rs201399518
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 Aug 22, 2019 RCV000438385.3
Likely benign 1 no assertion criteria provided Apr 17, 2017 RCV000675232.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GAA - - GRCh38
GRCh37
1499 1538

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 07, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000518675.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Aug 22, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001361270.1
Submitted: (Mar 06, 2020)
Evidence details
Comment:
Variant summary: GAA c.1755-18T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Likely benign
(Apr 17, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000800878.1
Submitted: (May 23, 2018)
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 rs201399518...

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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 14, 2021