NM_004006.3(DMD):c.468A>C (p.Val156=) AND Dystrophin deficiency

Clinical significance:Likely benign (Last evaluated: Sep 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001274386.1

Allele description [Variation Report for NM_004006.3(DMD):c.468A>C (p.Val156=)]

NM_004006.3(DMD):c.468A>C (p.Val156=)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.468A>C (p.Val156=)
HGVS:
  • NC_000023.11:g.32816530T>G
  • NG_012232.1:g.528080A>C
  • NM_000109.4:c.444A>C
  • NM_004006.2:c.468A>C
  • NM_004006.3:c.468A>CMANE SELECT
  • NM_004009.3:c.456A>C
  • NM_004010.3:c.99A>C
  • NP_000100.3:p.Val148=
  • NP_003997.1:p.Val156=
  • NP_003997.2:p.Val156=
  • NP_004000.1:p.Val152=
  • NP_004001.1:p.Val33=
  • LRG_199t1:c.468A>C
  • LRG_199:g.528080A>C
  • LRG_199p1:p.Val156=
  • NC_000023.10:g.32834647T>G
Links:
dbSNP: rs886044031
NCBI 1000 Genomes Browser:
rs886044031
Molecular consequence:
  • NM_000109.4:c.444A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004006.2:c.468A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004006.3:c.468A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004009.3:c.456A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004010.3:c.99A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Dystrophin deficiency
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001458503Natera, Inc.no assertion criteria providedLikely benign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001458503.1

#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: Oct 30, 2021

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