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NM_030973.4(MED25):c.1483-7C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 22, 2020
Accession:
VCV000221177.11
Variation ID:
221177
Description:
single nucleotide variant
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NM_030973.4(MED25):c.1483-7C>T

Allele ID
222816
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.33
Genomic location
19: 49834979 (GRCh38) GRCh38 UCSC
19: 50338236 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_030973.3:c.1483-7C>T
NC_000019.9:g.50338236C>T
LRG_368:g.21701C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:49834978:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00679 (T)

Allele frequency
1000 Genomes Project 0.00679
The Genome Aggregation Database (gnomAD) 0.01582
Exome Aggregation Consortium (ExAC) 0.01715
The Genome Aggregation Database (gnomAD), exomes 0.01730
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01791
Trans-Omics for Precision Medicine (TOPMed) 0.01500
Links
ClinGen: CA348972
dbSNP: rs2017698
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 22, 2020 RCV000204774.7
Benign 1 criteria provided, single submitter Apr 6, 2016 RCV000625156.2
Benign 1 criteria provided, single submitter Aug 5, 2020 RCV001001534.3
Benign 1 criteria provided, single submitter - RCV001173676.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001668371.2
Benign 1 no assertion criteria provided - RCV001699237.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MED25 - - GRCh38
GRCh37
378 395

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 22, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV000262443.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 06, 2016)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 2B2
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743931.1
Submitted: (Apr 17, 2018)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336778.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Aug 05, 2020)
criteria provided, single submitter
Method: clinical testing
Basel-Vanagaite-Smirin-Yosef syndrome
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001158852.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001888665.1
Submitted: (Sep 17, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001919244.1
Submitted: (Sep 23, 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 rs2017698...

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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 11, 2021