NM_004006.3(DMD):c.9125del (p.His3042fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 21, 2013
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:: RCV000080821.4

Allele description

NM_004006.3(DMD):c.9125del (p.His3042fs)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_004006.3(DMD):c.9125del (p.His3042fs)

HGVS:

NC_000023.11:g.31348594del
NG_012232.1:g.1996016del
NM_000109.4:c.9101del
NM_004006.3:c.9125delMANE SELECT
NM_004009.3:c.9113del
NM_004010.3:c.8756del
NM_004011.4:c.5102del
NM_004012.4:c.5093del
NM_004013.3:c.1745del
NM_004014.3:c.938del
NM_004020.4:c.1745del
NM_004021.3:c.1745del
NM_004022.3:c.1745del
NM_004023.3:c.1745del
NP_000100.3:p.His3034fs
NP_003997.2:p.His3042fs
NP_004000.1:p.His3038fs
NP_004001.1:p.His2919fs
NP_004002.3:p.His1701fs
NP_004003.2:p.His1698fs
NP_004004.2:p.His582fs
NP_004005.2:p.His313fs
NP_004011.3:p.His582fs
NP_004012.2:p.His582fs
NP_004013.2:p.His582fs
NP_004014.2:p.His582fs
LRG_199:g.1996016del
NC_000023.10:g.31366711del
NM_004006.2:c.9125delA

Protein change:

H1698fs

Links:

dbSNP: rs398124080

NCBI 1000 Genomes Browser:

rs398124080

Molecular consequence:

NM_000109.4:c.9101del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004006.3:c.9125del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004009.3:c.9113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004010.3:c.8756del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004011.4:c.5102del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004012.4:c.5093del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004013.3:c.1745del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004014.3:c.938del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004020.4:c.1745del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004021.3:c.1745del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004022.3:c.1745del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004023.3:c.1745del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000112723	EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Jan 21, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000112723

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Jan 21, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000112723.8

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

Last Updated: Oct 25, 2021

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