NM_004328.4(BCS1L):c.996C>T (p.Asn332=) AND not provided

Clinical significance:Benign (Last evaluated: Feb 22, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000677001.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.996C>T (p.Asn332=)]

NM_004328.4(BCS1L):c.996C>T (p.Asn332=)

Gene:
BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_004328.4(BCS1L):c.996C>T (p.Asn332=)
Other names:
p.N332N:AAC>AAT
HGVS:
  • NC_000002.12:g.218662989C>T
  • NG_008018.1:g.8334C>T
  • NM_001257344.1:c.996C>T
  • NM_004328.4:c.996C>T
  • NP_001244273.1:p.Asn332=
  • NP_004319.1:p.Asn332=
  • LRG_539t1:c.996C>T
  • LRG_539t2:c.996C>T
  • LRG_539:g.8334C>T
  • LRG_539p1:p.Asn332=
  • LRG_539p2:p.Asn332=
  • NC_000002.11:g.219527712C>T
  • p.Asn332Asn
Links:
dbSNP: rs33946522
NCBI 1000 Genomes Browser:
rs33946522
Molecular consequence:
  • NM_004328.4:c.996C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802830Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedBenign
(Feb 22, 2016)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802830.1

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

Last Updated: Mar 30, 2019

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