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NM_001355436.2(SPTB):c.204G>A (p.Leu68=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Dec 11, 2020)
Last evaluated:
Feb 18, 2020
Accession:
VCV000313783.2
Variation ID:
313783
Description:
single nucleotide variant
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NM_001355436.2(SPTB):c.204G>A (p.Leu68=)

Allele ID
330069
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q23.3
Genomic location
14: 64805035 (GRCh38) GRCh38 UCSC
14: 65271753 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.65271753C>T
NC_000014.9:g.64805035C>T
NM_001355436.2:c.204G>A MANE Select NP_001342365.1:p.Leu68= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:64805034:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (T)

Allele frequency
1000 Genomes Project 0.00100
The Genome Aggregation Database (gnomAD) 0.00137
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00115
Exome Aggregation Consortium (ExAC) 0.00135
Trans-Omics for Precision Medicine (TOPMed) 0.00089
The Genome Aggregation Database (gnomAD), exomes 0.00123
Links
ClinGen: CA7231517
dbSNP: rs145077630
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000343687.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000408063.1
Benign 1 criteria provided, single submitter Feb 18, 2020 RCV001286908.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SPTB - - GRCh38
GRCh37
297 316

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Spherocytosis, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000387902.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Elliptocytosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000387901.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Feb 18, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473534.1
Submitted: (Dec 11, 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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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 rs145077630...

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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 Jan 30, 2021