NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Nov 20, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000239262.3

Allele description [Variation Report for NM_000101.4(CYBA):c.179A>C (p.Lys60Thr)]

NM_000101.4(CYBA):c.179A>C (p.Lys60Thr)

Gene:
CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr)
HGVS:
  • NC_000016.10:g.88647125T>G
  • NG_007291.1:g.8925A>C
  • NM_000101.4:c.179A>CMANE SELECT
  • NP_000092.2:p.Lys60Thr
  • LRG_52t1:c.179A>C
  • LRG_52:g.8925A>C
  • NC_000016.9:g.88713533T>G
  • NM_000101.2:c.179A>C
  • NM_000101.3:c.179A>C
Protein change:
K60T
Links:
dbSNP: rs11547387
NCBI 1000 Genomes Browser:
rs11547387
Molecular consequence:
  • NM_000101.4:c.179A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000296871Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Likely benign
(Nov 20, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV000333565EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Sep 11, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000296871.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000333565.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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