ClinVar Genomic variation as it relates to human health
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
Variation ID: 46424 Accession: VCV000046424.50
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q12.1 18: 34794131 (GRCh38) [ NCBI UCSC ] 18: 32374095 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 29, 2016 Oct 8, 2024 Jul 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001386795.1:c.243A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001373724.1:p.Leu81= synonymous NM_001128175.2:c.243A>G NP_001121647.1:p.Leu81= synonymous NM_001198938.2:c.243A>G NP_001185867.1:p.Leu81= synonymous NM_001198939.2:c.243A>G NP_001185868.1:p.Leu81= synonymous NM_001198940.2:c.243A>G NP_001185869.1:p.Leu81= synonymous NM_001198941.2:c.243A>G NP_001185870.1:p.Leu81= synonymous NM_001198945.2:c.243A>G NP_001185874.1:p.Leu81= synonymous NM_001386753.1:c.243A>G NP_001373682.1:p.Leu81= synonymous NM_001386754.1:c.243A>G NP_001373683.1:p.Leu81= synonymous NM_001386755.1:c.243A>G NP_001373684.1:p.Leu81= synonymous NM_001386756.1:c.243A>G NP_001373685.1:p.Leu81= synonymous NM_001386757.1:c.243A>G NP_001373686.1:p.Leu81= synonymous NM_001386758.1:c.243A>G NP_001373687.1:p.Leu81= synonymous NM_001386759.1:c.243A>G NP_001373688.1:p.Leu81= synonymous NM_001386760.1:c.243A>G NP_001373689.1:p.Leu81= synonymous NM_001386761.1:c.243A>G NP_001373690.1:p.Leu81= synonymous NM_001386762.1:c.243A>G NP_001373691.1:p.Leu81= synonymous NM_001386763.1:c.243A>G NP_001373692.1:p.Leu81= synonymous NM_001386764.1:c.243A>G NP_001373693.1:p.Leu81= synonymous NM_001386765.1:c.243A>G NP_001373694.1:p.Leu81= synonymous NM_001386766.1:c.243A>G NP_001373695.1:p.Leu81= synonymous NM_001386767.1:c.243A>G NP_001373696.1:p.Leu81= synonymous NM_001386768.1:c.243A>G NP_001373697.1:p.Leu81= synonymous NM_001386769.1:c.243A>G NP_001373698.1:p.Leu81= synonymous NM_001386770.1:c.243A>G NP_001373699.1:p.Leu81= synonymous NM_001386771.1:c.243A>G NP_001373700.1:p.Leu81= synonymous NM_001386772.1:c.243A>G NP_001373701.1:p.Leu81= synonymous NM_001386773.1:c.243A>G NP_001373702.1:p.Leu81= synonymous NM_001386774.1:c.243A>G NP_001373703.1:p.Leu81= synonymous NM_001386775.1:c.243A>G NP_001373704.1:p.Leu81= synonymous NM_001386776.1:c.243A>G NP_001373705.1:p.Leu81= synonymous NM_001386777.1:c.243A>G NP_001373706.1:p.Leu81= synonymous NM_001386788.1:c.243A>G NP_001373717.1:p.Leu81= synonymous NM_001390.5:c.243A>G NP_001381.2:p.Leu81= synonymous NM_001391.5:c.243A>G NP_001382.2:p.Leu81= synonymous NM_001392.5:c.243A>G NP_001383.2:p.Leu81= synonymous NM_032975.4:c.243A>G NP_116757.2:p.Leu81= synonymous NM_032978.7:c.243A>G NP_116760.2:p.Leu81= synonymous NM_032979.5:c.243A>G NP_116761.2:p.Leu81= synonymous NC_000018.10:g.34794131A>G NC_000018.9:g.32374095A>G NG_009201.1:g.305842A>G LRG_756:g.305842A>G LRG_756t1:c.243A>G LRG_756p1:p.Leu81= LRG_756t2:c.243A>G LRG_756p2:p.Leu81= LRG_756t3:c.243A>G LRG_756p3:p.Leu81= LRG_756t4:c.243A>G LRG_756p4:p.Leu81= - Protein change
- Other names
- p.L81L:TTA>TTG
- Canonical SPDI
- NC_000018.10:34794130:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00060 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00047
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00239
Trans-Omics for Precision Medicine (TOPMed) 0.00247
The Genome Aggregation Database (gnomAD), exomes 0.00256
The Genome Aggregation Database (gnomAD) 0.00285
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00454
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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DTNA | - | - |
GRCh38 GRCh37 |
613 | 655 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign (4) |
criteria provided, multiple submitters, no conflicts
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Jan 28, 2021 | RCV000039683.10 | |
Benign (3) |
criteria provided, multiple submitters, no conflicts
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Jan 28, 2024 | RCV000227300.25 | |
Likely benign (3) |
criteria provided, single submitter
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Jul 1, 2024 | RCV001528307.22 | |
DTNA-related disorder
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Benign (1) |
no assertion criteria provided
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May 26, 2021 | RCV003964869.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(Apr 10, 2014)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000168278.11
First in ClinVar: Jun 23, 2014 Last updated: May 29, 2016 |
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)
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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
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Benign
(Aug 13, 2012)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000063372.5
First in ClinVar: May 03, 2013 Last updated: May 29, 2016 |
Comment:
Leu81Leu in Exon 05 of DTNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, … (more)
Leu81Leu in Exon 05 of DTNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence and has been identified in 0.6% (44/7020) of Europe an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs146923532). (less)
Number of individuals with the variant: 9
|
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Benign
(Jan 28, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001478611.1
First in ClinVar: Feb 12, 2021 Last updated: Feb 12, 2021 |
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Benign
(Aug 04, 2021)
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criteria provided, single submitter
Method: clinical testing
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Left ventricular noncompaction 1
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002797427.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Benign
(Jan 28, 2024)
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criteria provided, single submitter
Method: clinical testing
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Left ventricular noncompaction 1
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000291149.10
First in ClinVar: Jul 01, 2016 Last updated: Feb 14, 2024 |
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Benign
(Aug 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Left ventricular noncompaction 1
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001473020.4
First in ClinVar: Jan 26, 2021 Last updated: Feb 20, 2024 |
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Likely benign
(Jul 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001746543.19
First in ClinVar: Jul 10, 2021 Last updated: Oct 08, 2024 |
Comment:
DTNA: BP4, BP7, BS2
Number of individuals with the variant: 3
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957492.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Benign
(May 26, 2021)
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no assertion criteria provided
Method: clinical testing
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DTNA-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004793661.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001739829.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001964530.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Germline Functional Evidence
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 germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs146923532 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.