NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) AND not specified

Clinical significance:Benign (Last evaluated: Jan 24, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000117722.7

Allele description [Variation Report for NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)]

NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)

Gene:
NEB:nebulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.3
Genomic location:
Preferred name:
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
HGVS:
  • NC_000002.12:g.151612262T>C
  • NG_009382.2:g.127226A>G
  • NM_001164507.2:c.11729A>G
  • NM_001164508.2:c.11729A>GMANE SELECT
  • NM_001271208.2:c.11729A>G
  • NM_004543.5:c.11000A>G
  • NP_001157979.2:p.Asp3910Gly
  • NP_001157980.2:p.Asp3910Gly
  • NP_001258137.2:p.Asp3910Gly
  • NP_004534.3:p.Asp3667Gly
  • LRG_202t1:c.11729A>G
  • LRG_202:g.127226A>G
  • NC_000002.11:g.152468776T>C
  • NM_001271208.1:c.11729A>G
  • NM_004543.4:c.11000A>G
Protein change:
D3667G
Links:
dbSNP: rs35740585
NCBI 1000 Genomes Browser:
rs35740585
Molecular consequence:
  • NM_001164507.2:c.11729A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164508.2:c.11729A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271208.2:c.11729A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004543.5:c.11000A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000151970Genetic Services Laboratory,University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

SCV000307196PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

SCV000522834GeneDxcriteria provided, single submitter
Benign
(Feb 29, 2016)
germlineclinical testing

Citation Link,

SCV001476571Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jan 24, 2020)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M, Di Fruscio G, Mutarelli M, Torella A, Magri F, Santorelli FM, Comi GP, Bruno C, Nigro V.

Acta Neuropathol Commun. 2014 Sep 11;2:100. doi: 10.1186/s40478-014-0100-3.

PubMed [citation]
PMID:
25214167
PMCID:
PMC4172906
See all PubMed Citations (3)

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000151970.2

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

From PreventionGenetics,PreventionGenetics, SCV000307196.1

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

From GeneDx, SCV000522834.4

#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 Athena Diagnostics Inc, SCV001476571.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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