Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 13, 2021)
Last evaluated:
May 11, 2021
Accession:
VCV000129310.6
Variation ID:
129310
Description:
single nucleotide variant
Help

NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp)

Allele ID
134756
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q22.31
Genomic location
15: 65077609 (GRCh38) GRCh38 UCSC
15: 65369947 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.65077609G>A
NG_021411.1:g.5794G>A
NM_001101362.3:c.794G>A MANE Select NP_001094832.1:p.Gly265Asp missense
... more HGVS
Protein change
G265D
Other names
-
Canonical SPDI
NC_000015.10:65077608:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00399 (A)

Allele frequency
1000 Genomes Project 0.00399
Exome Aggregation Consortium (ExAC) 0.01861
Trans-Omics for Precision Medicine (TOPMed) 0.00780
The Genome Aggregation Database (gnomAD) 0.00958
The Genome Aggregation Database (gnomAD) 0.00996
Trans-Omics for Precision Medicine (TOPMed) 0.00800
The Genome Aggregation Database (gnomAD), exomes 0.00820
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00956
Links
ClinGen: CA153246
dbSNP: rs146917406
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts May 11, 2021 RCV000117311.7
Benign 2 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV000537939.4
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000306581.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000393290.3
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
(May 05, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519448.4
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
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 6
Allele origin: germline
Invitae
Accession: SCV000638797.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 11, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV000613824.2
Submitted: (Sep 13, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000151492.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)

Functional evidence

Help
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

Help
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 rs146917406...

Help
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