NM_004006.3(DMD):c.468A>C (p.Val156=) AND Duchenne muscular dystrophy

Clinical significance:Likely benign (Last evaluated: Oct 10, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001486144.1

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:
Duchenne muscular dystrophy (DMD)
Synonyms:
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Identifiers:
MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001690595Invitaecriteria provided, single submitter
Likely benign
(Oct 10, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001690595.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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