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NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 6, 2015
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:
RCV000248044.1

Allele description [Variation Report for NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)]

NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)
HGVS:
  • NC_000023.11:g.31774073G>A
  • NG_012232.1:g.1570537C>T
  • NM_000109.4:c.7405C>T
  • NM_004006.3:c.7429C>TMANE SELECT
  • NM_004009.3:c.7417C>T
  • NM_004010.3:c.7060C>T
  • NM_004011.4:c.3406C>T
  • NM_004012.4:c.3397C>T
  • NM_004013.3:c.49C>T
  • NM_004020.4:c.49C>T
  • NM_004021.3:c.49C>T
  • NM_004022.3:c.49C>T
  • NM_004023.3:c.49C>T
  • NP_000100.3:p.Arg2469Trp
  • NP_003997.1:p.Arg2477Trp
  • NP_003997.2:p.Arg2477Trp
  • NP_004000.1:p.Arg2473Trp
  • NP_004001.1:p.Arg2354Trp
  • NP_004002.3:p.Arg1136Trp
  • NP_004003.2:p.Arg1133Trp
  • NP_004004.2:p.Arg17Trp
  • NP_004011.3:p.Arg17Trp
  • NP_004012.2:p.Arg17Trp
  • NP_004013.2:p.Arg17Trp
  • NP_004014.2:p.Arg17Trp
  • LRG_199t1:c.7429C>T
  • LRG_199:g.1570537C>T
  • LRG_199p1:p.Arg2477Trp
  • NC_000023.10:g.31792190G>A
  • NM_004006.2:c.7429C>T
Protein change:
R1133W
Links:
dbSNP: rs759274835
NCBI 1000 Genomes Browser:
rs759274835
Molecular consequence:
  • NM_000109.4:c.7405C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.7429C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.7417C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.7060C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004011.4:c.3406C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004012.4:c.3397C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004013.3:c.49C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004020.4:c.49C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004021.3:c.49C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004022.3:c.49C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004023.3:c.49C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319992Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Aug 6, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000319992.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

There is insufficient or conflicting evidence for classification of this alteration.

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

Last Updated: Sep 29, 2024