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

Germline classification:
Benign (3 submissions)
Last evaluated:
Jan 31, 2024
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:
RCV000677000.13

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]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802829Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Benign
(Mar 15, 2016)
unknownclinical testing

SCV001143153Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Benign
(Nov 9, 2018)
germlineclinical testing

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

SCV001718502Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Jan 31, 2024)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802829.1

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

From Athena Diagnostics, SCV001143153.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001718502.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024