NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Jun 12, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622763.1

Allele description [Variation Report for NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)]

NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)

Gene:
NEB:nebulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.3
Genomic location:
Preferred name:
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
HGVS:
  • NC_000002.12:g.151551738C>T
  • NG_009382.2:g.187750G>A
  • NM_001164507.2:c.19944G>A
  • NM_001164508.2:c.19944G>AMANE SELECT
  • NM_001271208.2:c.19944G>A
  • NM_004543.5:c.14841G>A
  • NP_001157979.2:p.Ser6648=
  • NP_001157980.2:p.Ser6648=
  • NP_001258137.2:p.Ser6648=
  • NP_004534.3:p.Ser4947=
  • LRG_202t1:c.19944G>A
  • LRG_202:g.187750G>A
  • NC_000002.11:g.152408252C>T
  • NM_001271208.1:c.19944G>A
  • NM_004543.4:c.14841G>A
Links:
dbSNP: rs201553266
NCBI 1000 Genomes Browser:
rs201553266
Molecular consequence:
  • NM_001164507.2:c.19944G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164508.2:c.19944G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001271208.2:c.19944G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004543.5:c.14841G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000740914Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Jun 12, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African Americangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000740914.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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