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NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2016
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:
RCV000618045.1

Allele description [Variation Report for NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)]

NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)
HGVS:
  • NC_000023.11:g.32464630G>A
  • NG_012232.1:g.879980C>T
  • NM_000109.4:c.3208C>T
  • NM_004006.3:c.3232C>TMANE SELECT
  • NM_004009.3:c.3220C>T
  • NM_004010.3:c.2863C>T
  • NP_000100.3:p.Leu1070Phe
  • NP_003997.1:p.Leu1078Phe
  • NP_003997.2:p.Leu1078Phe
  • NP_004000.1:p.Leu1074Phe
  • NP_004001.1:p.Leu955Phe
  • LRG_199t1:c.3232C>T
  • LRG_199:g.879980C>T
  • LRG_199p1:p.Leu1078Phe
  • NC_000023.10:g.32482747G>A
  • NM_000109.4:c.3208C>T
  • NM_004006.2:c.3232C>T
Protein change:
L1070F
Links:
dbSNP: rs375329908
NCBI 1000 Genomes Browser:
rs375329908
Molecular consequence:
  • NM_000109.4:c.3208C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.3232C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.3220C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.2863C>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
SCV000736339Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Oct 27, 2016) 		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, SCV000736339.3

#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: Mar 18, 2023