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NM_000407.4(GP1BB):c.399C>T (p.Ala133=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000256031.3
Variation ID:
256031
Description:
single nucleotide variant
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NM_000407.4(GP1BB):c.399C>T (p.Ala133=)

Allele ID
257573
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.21
Genomic location
22: 19724242 (GRCh38) GRCh38 UCSC
22: 19711765 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.19711765C>T
NC_000022.11:g.19724242C>T
NM_000407.4:c.399C>T NP_000398.1:p.Ala133= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:19724241:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00419
The Genome Aggregation Database (gnomAD), exomes 0.00716
The Genome Aggregation Database (gnomAD) 0.00479
Exome Aggregation Consortium (ExAC) 0.00000
1000 Genomes Project 0.00220
Links
ClinGen: CA10102342
dbSNP: rs142352780
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter - RCV000247854.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000726288.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GP1BB - - GRCh38
GRCh37
1 425
SEPT5-GP1BB - - - GRCh38 - 221

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000304060.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(Jun 28, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343453.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001035136.2
Submitted: (Jan 29, 2020)
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=GP1BB - - - -

Text-mined citations for rs142352780...

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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 23, 2021