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

Clinical significance:Benign (Last evaluated: Mar 21, 2016)

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:
RCV000123833.2

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]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000167176GeneDxcriteria provided, single submitter
Benign
(Feb 14, 2012)
germlineclinical testing

Citation Link,

SCV000711846Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Mar 21, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From GeneDx, SCV000167176.12

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000711846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

p.Asn332Asn in exon 8 of BCS1L: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 11.50% (994/8646) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs33946522).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Mar 30, 2019

Support Center