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NM_004006.3(DMD):c.6122T>C (p.Ile2041Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 12, 2024
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:
RCV004034886.1

Allele description [Variation Report for NM_004006.3(DMD):c.6122T>C (p.Ile2041Thr)]

NM_004006.3(DMD):c.6122T>C (p.Ile2041Thr)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.6122T>C (p.Ile2041Thr)
HGVS:
  • NC_000023.11:g.32287697A>G
  • NG_012232.1:g.1056913T>C
  • NM_000109.4:c.6098T>C
  • NM_004006.3:c.6122T>CMANE SELECT
  • NM_004009.3:c.6110T>C
  • NM_004010.3:c.5753T>C
  • NM_004011.4:c.2099T>C
  • NM_004012.4:c.2090T>C
  • NP_000100.3:p.Ile2033Thr
  • NP_003997.2:p.Ile2041Thr
  • NP_004000.1:p.Ile2037Thr
  • NP_004001.1:p.Ile1918Thr
  • NP_004002.3:p.Ile700Thr
  • NP_004003.2:p.Ile697Thr
  • LRG_199t1:c.6122T>C
  • LRG_199:g.1056913T>C
  • NC_000023.10:g.32305814A>G
  • NM_004006.2:c.6122T>C
Protein change:
I1918T
Links:
dbSNP: rs749441036
NCBI 1000 Genomes Browser:
rs749441036
Molecular consequence:
  • NM_000109.4:c.6098T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.6122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.6110T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.5753T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004011.4:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004012.4:c.2090T>C - 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
SCV005021412Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 12, 2024) 		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, SCV005021412.1

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

Description

The p.I2041T variant (also known as c.6122T>C), located in coding exon 43 of the DMD gene, results from a T to C substitution at nucleotide position 6122. The isoleucine at codon 2041 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of <0.01% (2/155307) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.017% (2/11436) of East Asian alleles. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024