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NM_004006.3(DMD):c.4927G>T (p.Gly1643Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 28, 2020
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:
RCV002340741.2

Allele description [Variation Report for NM_004006.3(DMD):c.4927G>T (p.Gly1643Cys)]

NM_004006.3(DMD):c.4927G>T (p.Gly1643Cys)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.4927G>T (p.Gly1643Cys)
HGVS:
  • NC_000023.11:g.32365118C>A
  • NG_012232.1:g.979492G>T
  • NM_000109.4:c.4903G>T
  • NM_004006.3:c.4927G>TMANE SELECT
  • NM_004009.3:c.4915G>T
  • NM_004010.3:c.4558G>T
  • NM_004011.4:c.904G>T
  • NM_004012.4:c.895G>T
  • NP_000100.3:p.Gly1635Cys
  • NP_003997.1:p.Gly1643Cys
  • NP_003997.2:p.Gly1643Cys
  • NP_004000.1:p.Gly1639Cys
  • NP_004001.1:p.Gly1520Cys
  • NP_004002.3:p.Gly302Cys
  • NP_004003.2:p.Gly299Cys
  • LRG_199t1:c.4927G>T
  • LRG_199:g.979492G>T
  • LRG_199p1:p.Gly1643Cys
  • NC_000023.10:g.32383235C>A
  • NM_004006.2:c.4927G>T
Protein change:
G1520C
Molecular consequence:
  • NM_000109.4:c.4903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.4927G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.4915G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.4558G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004011.4:c.904G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004012.4:c.895G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002644503Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 28, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002644503.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.G1643C variant (also known as c.4927G>T), located in coding exon 35 of the DMD gene, results from a G to T substitution at nucleotide position 4927. The glycine at codon 1643 is replaced by cysteine, an amino acid with highly dissimilar properties. This allele was reported in one heterozygous individual in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024