NM_004006.3(DMD):c.10262+1G>A AND Duchenne muscular dystrophy

Clinical significance:Benign/Likely benign (Last evaluated: Dec 4, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000990563.3

Allele description [Variation Report for NM_004006.3(DMD):c.10262+1G>A]

NM_004006.3(DMD):c.10262+1G>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.10262+1G>A
HGVS:
  • NC_000023.11:g.31177931C>T
  • NG_012232.1:g.2166679G>A
  • NM_000109.4:c.10238+1G>A
  • NM_004006.2:c.10262+1G>A
  • NM_004006.3:c.10262+1G>AMANE SELECT
  • NM_004009.3:c.10250+1G>A
  • NM_004010.3:c.9893+1G>A
  • NM_004011.4:c.6239+1G>A
  • NM_004012.4:c.6230+1G>A
  • NM_004013.3:c.2882+1G>A
  • NM_004014.3:c.2075+1G>A
  • NM_004015.3:c.1058+1G>A
  • NM_004016.3:c.1058+1G>A
  • NM_004017.3:c.1019+738G>A
  • NM_004018.3:c.1019+738G>A
  • NM_004020.4:c.2843+738G>A
  • NM_004021.3:c.2882+1G>A
  • NM_004022.3:c.2843+738G>A
  • NM_004023.3:c.2843+738G>A
  • LRG_199t1:c.10262+1G>A
  • LRG_199:g.2166679G>A
  • NC_000023.10:g.31196048C>T
Links:
dbSNP: rs145603325
NCBI 1000 Genomes Browser:
rs145603325
Molecular consequence:
  • NM_004017.3:c.1019+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004018.3:c.1019+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004020.4:c.2843+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004022.3:c.2843+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004023.3:c.2843+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000109.4:c.10238+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004006.2:c.10262+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004006.3:c.10262+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004009.3:c.10250+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004010.3:c.9893+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004011.4:c.6239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004012.4:c.6230+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004013.3:c.2882+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004014.3:c.2075+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004015.3:c.1058+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004016.3:c.1058+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004021.3:c.2882+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000625826Invitaecriteria provided, single submitter
Benign
(Dec 4, 2020)
germlineclinical testing

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

SCV001141576Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000625826.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001141576.1

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

Last Updated: Oct 30, 2021

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