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NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) AND GRACILE syndrome

Germline classification:
Benign (2 submissions)
Last evaluated:
Apr 27, 2017
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:
RCV001137963.13

Allele description [Variation Report for NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)]

NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)

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.613G>A (p.Val205Ile)
Other names:
p.V205I:GTC>ATC
HGVS:
  • NC_000002.12:g.218661911G>A
  • NG_008018.1:g.7256G>A
  • NG_033099.1:g.2630C>T
  • NM_001079866.2:c.613G>AMANE SELECT
  • NM_001257342.2:c.613G>A
  • NM_001257343.2:c.613G>A
  • NM_001257344.2:c.613G>A
  • NM_001318836.2:c.253G>A
  • NM_001320717.2:c.613G>A
  • NM_001371443.1:c.613G>A
  • NM_001371444.1:c.613G>A
  • NM_001371446.1:c.613G>A
  • NM_001371447.1:c.613G>A
  • NM_001371448.1:c.613G>A
  • NM_001371449.1:c.613G>A
  • NM_001371450.1:c.613G>A
  • NM_001371451.1:c.253G>A
  • NM_001371452.1:c.112G>A
  • NM_001371453.1:c.112G>A
  • NM_001371454.1:c.112G>A
  • NM_001371455.1:c.112G>A
  • NM_001371456.1:c.112G>A
  • NM_001374085.1:c.613G>A
  • NM_001374086.1:c.112G>A
  • NM_004328.5:c.613G>A
  • NP_001073335.1:p.Val205Ile
  • NP_001244271.1:p.Val205Ile
  • NP_001244272.1:p.Val205Ile
  • NP_001244273.1:p.Val205Ile
  • NP_001305765.1:p.Val85Ile
  • NP_001307646.1:p.Val205Ile
  • NP_001358372.1:p.Val205Ile
  • NP_001358373.1:p.Val205Ile
  • NP_001358375.1:p.Val205Ile
  • NP_001358376.1:p.Val205Ile
  • NP_001358377.1:p.Val205Ile
  • NP_001358378.1:p.Val205Ile
  • NP_001358379.1:p.Val205Ile
  • NP_001358380.1:p.Val85Ile
  • NP_001358381.1:p.Val38Ile
  • NP_001358382.1:p.Val38Ile
  • NP_001358383.1:p.Val38Ile
  • NP_001358384.1:p.Val38Ile
  • NP_001358385.1:p.Val38Ile
  • NP_001361014.1:p.Val205Ile
  • NP_001361015.1:p.Val38Ile
  • NP_004319.1:p.Val205Ile
  • NP_004319.1:p.Val205Ile
  • LRG_539t1:c.613G>A
  • LRG_539:g.7256G>A
  • LRG_539p1:p.Val205Ile
  • NC_000002.11:g.219526634G>A
  • NM_001079866.1:c.613G>A
  • NM_004328.4:c.613G>A
  • NR_163955.1:n.1625G>A
Protein change:
V205I
Links:
dbSNP: rs148278887
NCBI 1000 Genomes Browser:
rs148278887
Molecular consequence:
  • NM_001079866.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1625G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
GRACILE syndrome (FLNMS)
Synonyms:
Finnish lactic acidosis with hepatic hemosiderosis; Fellman syndrome; Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011308; MedGen: C1864002; Orphanet: 53693; OMIM: 603358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001297963Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Benign
(Apr 27, 2017)
germlineclinical testing

Citation Link,

SCV001455776Natera, Inc.
no assertion criteria provided
Benign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001297963.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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

From Natera, Inc., SCV001455776.1

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

Last Updated: Jul 15, 2024