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

Clinical significance:Likely benign (Last evaluated: Jan 19, 2021)

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:
RCV001310341.4

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001500095CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Oct 1, 2020)
germlineclinical testing

Citation Link,

SCV001778805GeneDxcriteria provided, single submitter
Likely benign
(Jan 19, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001500095.3

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

From GeneDx, SCV001778805.1

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

Description

This variant is associated with the following publications: (PMID: 10910929, 27048830, 29454792, 20167518)

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

Last Updated: Nov 27, 2021

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