NM_004006.3(DMD):c.10262+1G>A AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Jan 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000621654.1

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_004006.3: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
  • NM_004006.2:c.10262+1G>A
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_004006.3: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]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000737260Ambry Geneticscriteria provided, single submitter
Likely benign
(Jan 9, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, et al.

Neuron. 2013 Jan 23;77(2):235-42. doi: 10.1016/j.neuron.2012.12.029.

PubMed [citation]
PMID:
23352160
PMCID:
PMC3613849

Sudden unexpected death in the young - Value of massive parallel sequencing in postmortem genetic analyses.

Scheiper S, Ramos-Luis E, Blanco-Verea A, Niess C, Beckmann BM, Schmidt U, Kettner M, Geisen C, Verhoff MA, Brion M, Kauferstein S.

Forensic Sci Int. 2018 Dec;293:70-76. doi: 10.1016/j.forsciint.2018.09.034. Epub 2018 Oct 26.

PubMed [citation]
PMID:
30415094

Details of each submission

From Ambry Genetics, SCV000737260.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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