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NM_004006.3(DMD):c.7310-7A>G AND not provided

Germline classification:
Benign (4 submissions)
Last evaluated:
Nov 10, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001529411.7

Allele description [Variation Report for NM_004006.3(DMD):c.7310-7A>G]

NM_004006.3(DMD):c.7310-7A>G

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.7310-7A>G
HGVS:
  • NC_000023.11:g.31774199T>C
  • NG_012232.1:g.1570411A>G
  • NM_000109.4:c.7286-7A>G
  • NM_004006.3:c.7310-7A>GMANE SELECT
  • NM_004009.3:c.7298-7A>G
  • NM_004010.3:c.6941-7A>G
  • NM_004011.4:c.3287-7A>G
  • NM_004012.4:c.3278-7A>G
  • NM_004013.3:c.-71-7A>G
  • NM_004020.4:c.-71-7A>G
  • NM_004021.3:c.-71-7A>G
  • NM_004022.3:c.-71-7A>G
  • NM_004023.3:c.-71-7A>G
  • LRG_199t1:c.7310-7A>G
  • LRG_199:g.1570411A>G
  • NC_000023.10:g.31792316T>C
  • NM_004006.2:c.7310-7A>G
Links:
dbSNP: rs373230021
NCBI 1000 Genomes Browser:
rs373230021
Molecular consequence:
  • NM_000109.4:c.7286-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004006.3:c.7310-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004009.3:c.7298-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004010.3:c.6941-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004011.4:c.3287-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004012.4:c.3278-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004013.3:c.-71-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004020.4:c.-71-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004021.3:c.-71-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004022.3:c.-71-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004023.3:c.-71-7A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001742817Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV001945291GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Nov 10, 2020)
germlineclinical testing

Citation Link,

SCV001952854Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001974171Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742817.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001945291.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001952854.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974171.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024