NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser) AND not provided

Clinical significance:Likely benign (Last evaluated: Jan 10, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000425835.4

Allele description [Variation Report for NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser)]

NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser)

Gene:
PRKDC:protein kinase, DNA-activated, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q11.21
Genomic location:
Preferred name:
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser)
HGVS:
  • NC_000008.11:g.47798319T>C
  • NG_023435.1:g.166865A>G
  • NM_001081640.2:c.10376A>G
  • NM_006904.6:c.10376A>G
  • NM_006904.7:c.10376A>GMANE SELECT
  • NP_001075109.1:p.Asn3459Ser
  • NP_008835.5:p.Asn3459Ser
  • NP_008835.5:p.Asn3459Ser
  • LRG_162t1:c.10376A>G
  • LRG_162:g.166865A>G
  • LRG_162p1:p.Asn3459Ser
  • NC_000008.10:g.48710880T>C
Protein change:
N3459S
Links:
dbSNP: rs8178228
NCBI 1000 Genomes Browser:
rs8178228
Molecular consequence:
  • NM_001081640.2:c.10376A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006904.6:c.10376A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006904.7:c.10376A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000511028Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely Benign
(Jan 10, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot 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

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000511028.1

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

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.002318not providednot provided

Last Updated: Oct 30, 2021

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