NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) AND Cardiovascular phenotype

Clinical significance:Benign (Last evaluated: Jul 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000250253.1

Allele description [Variation Report for NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)]

NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
Other names:
p.T630A:ACA>GCA
HGVS:
  • NC_000023.11:g.32565806T>C
  • NG_012232.1:g.778804A>G
  • NM_000109.4:c.1864A>G
  • NM_004006.2:c.1888A>G
  • NM_004006.3:c.1888A>GMANE SELECT
  • NM_004009.3:c.1876A>G
  • NM_004010.3:c.1519A>G
  • NP_000100.3:p.Thr622Ala
  • NP_003997.1:p.Thr630Ala
  • NP_003997.2:p.Thr630Ala
  • NP_004000.1:p.Thr626Ala
  • NP_004001.1:p.Thr507Ala
  • LRG_199t1:c.1888A>G
  • LRG_199:g.778804A>G
  • LRG_199p1:p.Thr630Ala
  • NC_000023.10:g.32583923T>C
Protein change:
T507A
Links:
dbSNP: rs72468692
NCBI 1000 Genomes Browser:
rs72468692
Molecular consequence:
  • NM_000109.4:c.1864A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.2:c.1888A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.1888A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.1876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000319904Ambry Geneticscriteria provided, single submitter
Benign
(Jul 10, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000319904.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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

Last Updated: Nov 27, 2021

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