NM_004006.3(DMD):c.9975-160_9975-159insTAA AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 6, 2018
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:: RCV001545351.2

Allele description [Variation Report for NM_004006.3(DMD):c.9975-160_9975-159insTAA]

NM_004006.3(DMD):c.9975-160_9975-159insTAA

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_004006.3(DMD):c.9975-160_9975-159insTAA

HGVS:

NC_000023.11:g.31180640_31180641insTTA
NG_012232.1:g.2163969_2163970insTAA
NM_000109.4:c.9951-160_9951-159insTAA
NM_004006.3:c.9975-160_9975-159insTAAMANE SELECT
NM_004009.3:c.9963-160_9963-159insTAA
NM_004010.3:c.9606-160_9606-159insTAA
NM_004011.4:c.5952-160_5952-159insTAA
NM_004012.4:c.5943-160_5943-159insTAA
NM_004013.3:c.2595-160_2595-159insTAA
NM_004014.3:c.1788-160_1788-159insTAA
NM_004015.3:c.771-160_771-159insTAA
NM_004016.3:c.771-160_771-159insTAA
NM_004017.3:c.771-160_771-159insTAA
NM_004018.3:c.771-160_771-159insTAA
NM_004019.3:c.771-160_771-159insTAA
NM_004020.4:c.2595-160_2595-159insTAA
NM_004021.3:c.2595-160_2595-159insTAA
NM_004022.3:c.2595-160_2595-159insTAA
NM_004023.3:c.2595-160_2595-159insTAA
LRG_199:g.2163969_2163970insTAA
NC_000023.10:g.31198757_31198758insTTA

Links:

dbSNP: rs777425999

NCBI 1000 Genomes Browser:

rs777425999

Molecular consequence:

NM_000109.4:c.9951-160_9951-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004006.3:c.9975-160_9975-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004009.3:c.9963-160_9963-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004010.3:c.9606-160_9606-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004011.4:c.5952-160_5952-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004012.4:c.5943-160_5943-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004013.3:c.2595-160_2595-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004014.3:c.1788-160_1788-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004015.3:c.771-160_771-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004016.3:c.771-160_771-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004017.3:c.771-160_771-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004018.3:c.771-160_771-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004019.3:c.771-160_771-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004020.4:c.2595-160_2595-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004021.3:c.2595-160_2595-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004022.3:c.2595-160_2595-159insTAA - intron variant - [Sequence Ontology: SO:0001627]
NM_004023.3:c.2595-160_2595-159insTAA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001764671	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 6, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001764671

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 6, 2018)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001764671.1

#	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: Dec 24, 2023

ClinVar

Relating variation to medicine