NM_004006.3(DMD):c.7310-7A>G AND Duchenne muscular dystrophy

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 11, 2024
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:: RCV000862414.9

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)

Name:: Duchenne muscular dystrophy (DMD)
Synonyms:: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Identifiers:: MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200

Recent activity

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Mus musculus ADP-ribosylation factor 2 (Arf2), transcript variant 1, mRNA
Mus musculus ADP-ribosylation factor 2 (Arf2), transcript variant 1, mRNA
gi|754170295|ref|NM_007477.5|

Nucleotide
dab27d12.y2 NICHD_XGC_Sp1 Xenopus laevis cDNA clone IMAGE:4175663 5' similar to ...
dab27d12.y2 NICHD_XGC_Sp1 Xenopus laevis cDNA clone IMAGE:4175663 5' similar to TR:Q9R181 Q9R181 INDUCIBLE PROTEIN, mRNA sequence
gi|13796783|gnl|dbEST|8418286|gb|BG 3.1|

Nucleotide
Numida meleagris
Numida meleagris

Genome
Genome Links for Gene (Select 110402572) (1)
Genome
PREDICTED: Numida meleagris MPL proto-oncogene, thrombopoietin receptor (MPL), t...
PREDICTED: Numida meleagris MPL proto-oncogene, thrombopoietin receptor (MPL), transcript variant X7, mRNA
gi|1201901537|ref|XM_021404835.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001002921	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 11, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001002921

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 11, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001002921.6

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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