NM_004006.3(DMD):c.9225-5795G>A AND not provided

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Jul 1, 2023
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:: RCV000999367.22

Allele description [Variation Report for NM_004006.3(DMD):c.9225-5795G>A]

NM_004006.3(DMD):c.9225-5795G>A

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_004006.3(DMD):c.9225-5795G>A

HGVS:

NC_000023.11:g.31266811C>T
NG_012232.1:g.2077799G>A
NM_000109.4:c.9201-5795G>A
NM_004006.2:c.9225-5795G>A
NM_004006.3:c.9225-5795G>AMANE SELECT
NM_004009.3:c.9213-5795G>A
NM_004010.3:c.8856-5795G>A
NM_004011.4:c.5202-5795G>A
NM_004012.4:c.5193-5795G>A
NM_004013.3:c.1845-5795G>A
NM_004014.3:c.1038-5795G>A
NM_004015.3:c.19G>A
NM_004016.3:c.19G>A
NM_004017.3:c.19G>A
NM_004018.3:c.19G>A
NM_004019.3:c.19G>A
NM_004020.4:c.1845-5795G>A
NM_004021.3:c.1845-5795G>A
NM_004022.3:c.1845-5795G>A
NM_004023.3:c.1845-5795G>A
NP_004006.1:p.Gly7Ser
NP_004007.1:p.Gly7Ser
NP_004008.1:p.Gly7Ser
NP_004009.1:p.Gly7Ser
NP_004010.1:p.Gly7Ser
LRG_199t1:c.9225-5795G>A
LRG_199:g.2077799G>A
NC_000023.10:g.31284928C>T

Protein change:

G7S

Links:

dbSNP: rs138287985

NCBI 1000 Genomes Browser:

rs138287985

Molecular consequence:

NM_000109.4:c.9201-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004006.3:c.9225-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004009.3:c.9213-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004010.3:c.8856-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004011.4:c.5202-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004012.4:c.5193-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004013.3:c.1845-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004014.3:c.1038-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004020.4:c.1845-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004021.3:c.1845-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004022.3:c.1845-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004023.3:c.1845-5795G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004015.3:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004016.3:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004017.3:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004018.3:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004019.3:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Cutibacterium acnes TypeIA2 P.acn31, complete sequence
Cutibacterium acnes TypeIA2 P.acn31, complete sequence
gi|365961730|ref|NC_016511.1|

Nucleotide
F8QN77 (0)
Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001155947	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jul 1, 2023)	germline	clinical testing	Citation Link,
SCV001798211	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001928868	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001972050	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001155947.25

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

DMD: BP4, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798211.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001928868.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001972050.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine

NM_004006.3(DMD):c.9225-5795G>A AND not provided

Allele description [Variation Report for NM_004006.3(DMD):c.9225-5795G>A]

NM_004006.3(DMD):c.9225-5795G>A

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001155947.25

Description

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798211.1

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001928868.1

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001972050.1