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NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 24, 2020
Accession:
VCV000257450.5
Variation ID:
257450
Description:
single nucleotide variant
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NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=)

Allele ID
255329
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q22.31
Genomic location
15: 65077892 (GRCh38) GRCh38 UCSC
15: 65370230 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.65370230A>G
NM_001101362.2:c.1077A>G NP_001094832.1:p.Gly359= synonymous
NC_000015.10:g.65077892A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:65077891:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00211
The Genome Aggregation Database (gnomAD) 0.00224
Exome Aggregation Consortium (ExAC) 0.00238
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00258
Trans-Omics for Precision Medicine (TOPMed) 0.00237
1000 Genomes Project 0.00180
Trans-Omics for Precision Medicine (TOPMed) 0.00207
The Genome Aggregation Database (gnomAD) 0.00211
Links
ClinGen: CA7614061
dbSNP: rs199526404
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jun 6, 2017 RCV000254482.3
Benign 2 criteria provided, multiple submitters, no conflicts Nov 24, 2020 RCV000556370.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KBTBD13 - - GRCh38
GRCh37
301 316

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: SCV000306569.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000393297.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jun 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613823.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Aug 08, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000530062.4
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)
Benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 6
Allele origin: germline
Invitae
Accession: SCV000638767.5
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 rs199526404...

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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