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NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Mar 21, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000123832.5

Allele description [Variation Report for NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)]

NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)

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_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)
Other names:
p.D210N:GAT>AAT
HGVS:
  • NC_000002.12:g.218661926G>A
  • NG_008018.1:g.7271G>A
  • NG_033099.1:g.2615C>T
  • NM_001079866.2:c.628G>AMANE SELECT
  • NM_001257342.2:c.628G>A
  • NM_001257343.2:c.628G>A
  • NM_001257344.2:c.628G>A
  • NM_001318836.2:c.268G>A
  • NM_001320717.2:c.628G>A
  • NM_001371443.1:c.628G>A
  • NM_001371444.1:c.628G>A
  • NM_001371446.1:c.628G>A
  • NM_001371447.1:c.628G>A
  • NM_001371448.1:c.628G>A
  • NM_001371449.1:c.628G>A
  • NM_001371450.1:c.628G>A
  • NM_001371451.1:c.268G>A
  • NM_001371452.1:c.127G>A
  • NM_001371453.1:c.127G>A
  • NM_001371454.1:c.127G>A
  • NM_001371455.1:c.127G>A
  • NM_001371456.1:c.127G>A
  • NM_001374085.1:c.628G>A
  • NM_001374086.1:c.127G>A
  • NM_004328.5:c.628G>A
  • NP_001073335.1:p.Asp210Asn
  • NP_001244271.1:p.Asp210Asn
  • NP_001244272.1:p.Asp210Asn
  • NP_001244273.1:p.Asp210Asn
  • NP_001305765.1:p.Asp90Asn
  • NP_001307646.1:p.Asp210Asn
  • NP_001358372.1:p.Asp210Asn
  • NP_001358373.1:p.Asp210Asn
  • NP_001358375.1:p.Asp210Asn
  • NP_001358376.1:p.Asp210Asn
  • NP_001358377.1:p.Asp210Asn
  • NP_001358378.1:p.Asp210Asn
  • NP_001358379.1:p.Asp210Asn
  • NP_001358380.1:p.Asp90Asn
  • NP_001358381.1:p.Asp43Asn
  • NP_001358382.1:p.Asp43Asn
  • NP_001358383.1:p.Asp43Asn
  • NP_001358384.1:p.Asp43Asn
  • NP_001358385.1:p.Asp43Asn
  • NP_001361014.1:p.Asp210Asn
  • NP_001361015.1:p.Asp43Asn
  • NP_004319.1:p.Asp210Asn
  • NP_004319.1:p.Asp210Asn
  • LRG_539t1:c.628G>A
  • LRG_539:g.7271G>A
  • LRG_539p1:p.Asp210Asn
  • NC_000002.11:g.219526649G>A
  • NM_004328.4:c.628G>A
  • NR_163955.1:n.1640G>A
Protein change:
D210N
Links:
dbSNP: rs58447305
NCBI 1000 Genomes Browser:
rs58447305
Molecular consequence:
  • NM_001079866.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1640G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
18

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
SCV000167175GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(Dec 9, 2011)
germlineclinical testing

Citation Link,

SCV000711810Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Mar 21, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1818not 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, SCV000167175.10

#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, Mass General Brigham Personalized Medicine, SCV000711810.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided18not providednot providedclinical testing PubMed (1)

Description

p.Asp210Asn in exon 5 of BCS1L: This variant is not expected to have clinical si gnificance because it has been identified in 23.75% (314/1322) of African chromo somes by the 1000 Genomes Project (Phase 3; dbSNP rs58447305).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided18not provided18not provided

Last Updated: May 19, 2024