NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 15, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000825116.4

Allele description [Variation Report for NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)]

NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)

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.1000G>A (p.Val334Ile)
HGVS:
  • NC_000002.12:g.218662993G>A
  • NG_008018.1:g.8338G>A
  • NG_033099.1:g.1548C>T
  • NM_001079866.2:c.1000G>AMANE SELECT
  • NM_001257342.2:c.1000G>A
  • NM_001257343.2:c.1000G>A
  • NM_001257344.2:c.1000G>A
  • NM_001318836.2:c.640G>A
  • NM_001320717.2:c.1000G>A
  • NM_001371443.1:c.1000G>A
  • NM_001371444.1:c.1000G>A
  • NM_001371446.1:c.1000G>A
  • NM_001371447.1:c.1000G>A
  • NM_001371448.1:c.1000G>A
  • NM_001371449.1:c.1000G>A
  • NM_001371450.1:c.1000G>A
  • NM_001371451.1:c.640G>A
  • NM_001371452.1:c.499G>A
  • NM_001371453.1:c.499G>A
  • NM_001371454.1:c.499G>A
  • NM_001371455.1:c.499G>A
  • NM_001371456.1:c.499G>A
  • NM_001374085.1:c.1000G>A
  • NM_001374086.1:c.499G>A
  • NM_004328.5:c.1000G>A
  • NP_001073335.1:p.Val334Ile
  • NP_001244271.1:p.Val334Ile
  • NP_001244272.1:p.Val334Ile
  • NP_001244273.1:p.Val334Ile
  • NP_001305765.1:p.Val214Ile
  • NP_001307646.1:p.Val334Ile
  • NP_001358372.1:p.Val334Ile
  • NP_001358373.1:p.Val334Ile
  • NP_001358375.1:p.Val334Ile
  • NP_001358376.1:p.Val334Ile
  • NP_001358377.1:p.Val334Ile
  • NP_001358378.1:p.Val334Ile
  • NP_001358379.1:p.Val334Ile
  • NP_001358380.1:p.Val214Ile
  • NP_001358381.1:p.Val167Ile
  • NP_001358382.1:p.Val167Ile
  • NP_001358383.1:p.Val167Ile
  • NP_001358384.1:p.Val167Ile
  • NP_001358385.1:p.Val167Ile
  • NP_001361014.1:p.Val334Ile
  • NP_001361015.1:p.Val167Ile
  • NP_004319.1:p.Val334Ile
  • LRG_539t1:c.1000G>A
  • LRG_539:g.8338G>A
  • NC_000002.11:g.219527716G>A
  • NM_004328.4:c.1000G>A
  • NR_163955.1:n.2007G>A
  • p.Val334Ile
Protein change:
V167I
Links:
dbSNP: rs146731467
NCBI 1000 Genomes Browser:
rs146731467
Molecular consequence:
  • NM_001079866.2:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.2007G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000966371Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Feb 15, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000966371.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Val334Ile in exon 8 of BCS1L: This variant is not expected to have clinical si gnificance due to a lack of conservation across species (27 species including 9 mammals have Ile at this position). In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has also been iden tified in 0.3% (75/23992) of African chromosomes by the Genome Aggregation Datab ase (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs146731467). ACMG/AMP Cri teria applied: BS1; BP4_Strong.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jan 13, 2025