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NM_004006.3(DMD):c.6828C>T (p.Pro2276=) AND not specified

Germline classification:
Benign (4 submissions)
Last evaluated:
Aug 19, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000080740.21

Allele description [Variation Report for NM_004006.3(DMD):c.6828C>T (p.Pro2276=)]

NM_004006.3(DMD):c.6828C>T (p.Pro2276=)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
Other names:
p.P2276P:CCC>CCT
HGVS:
  • NC_000023.11:g.31929680G>A
  • NG_012232.1:g.1414930C>T
  • NM_000109.4:c.6804C>T
  • NM_004006.3:c.6828C>TMANE SELECT
  • NM_004009.3:c.6816C>T
  • NM_004010.3:c.6459C>T
  • NM_004011.4:c.2805C>T
  • NM_004012.4:c.2796C>T
  • NM_004013.3:c.-553C>T
  • NM_004020.4:c.-553C>T
  • NM_004021.3:c.-553C>T
  • NM_004022.3:c.-553C>T
  • NM_004023.3:c.-553C>T
  • NP_000100.3:p.Pro2268=
  • NP_003997.1:p.Pro2276=
  • NP_003997.2:p.Pro2276=
  • NP_004000.1:p.Pro2272=
  • NP_004001.1:p.Pro2153=
  • NP_004002.3:p.Pro935=
  • NP_004003.2:p.Pro932=
  • LRG_199t1:c.6828C>T
  • LRG_199:g.1414930C>T
  • LRG_199p1:p.Pro2276=
  • NC_000023.10:g.31947797G>A
  • NM_004006.2:c.6828C>T
  • NP_003997.1:p.(=)
  • p.Pro2276Pro
Links:
dbSNP: rs72466595
NCBI 1000 Genomes Browser:
rs72466595
Molecular consequence:
  • NM_004013.3:c.-553C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004020.4:c.-553C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004021.3:c.-553C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004022.3:c.-553C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004023.3:c.-553C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000109.4:c.6804C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004006.3:c.6828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004009.3:c.6816C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004010.3:c.6459C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004011.4:c.2805C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004012.4:c.2796C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000112642Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Apr 21, 2016)
germlineclinical testing

Citation Link,

SCV000168136GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(Mar 13, 2014)
germlineclinical testing

Citation Link,

SCV000966289Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Apr 6, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004038125Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Benign
(Aug 19, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing
not providedgermlinenot provided11not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Eurofins Ntd Llc (ga), SCV000112642.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

From GeneDx, SCV000168136.11

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000966289.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This variant is classified as benign because it has been identified in 0.05% (96 /200010) of chromosomes in the Genome Aggregation Database (gnomAD, http://gnoma d.broadinstitute.org; dbSNP rs72466595). This variant is a silent change that do es not alter an amino acid and it is not predicted to impact splicing by in sili co prediction tools. ACMG/AMP Criteria applied: BA1; BP4; BP7.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004038125.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024