NM_001079866.2(BCS1L):c.291_293del (p.Val98del) AND GRACILE syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 2, 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:: RCV000670438.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.291_293del (p.Val98del)]

NM_001079866.2(BCS1L):c.291_293del (p.Val98del)

Gene:

BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001079866.2(BCS1L):c.291_293del (p.Val98del)

HGVS:

NC_000002.12:g.218661278_218661280del
NG_008018.1:g.6623_6625del
NG_033099.1:g.3262_3264del
NM_001079866.2:c.291_293delMANE SELECT
NM_001257342.2:c.291_293del
NM_001257343.2:c.291_293del
NM_001257344.2:c.291_293del
NM_001318836.2:c.-40-128_-40-126del
NM_001320717.2:c.291_293del
NM_001371443.1:c.291_293del
NM_001371444.1:c.291_293del
NM_001371446.1:c.291_293del
NM_001371447.1:c.291_293del
NM_001371448.1:c.291_293del
NM_001371449.1:c.291_293del
NM_001371450.1:c.291_293del
NM_001371451.1:c.-40-128_-40-126del
NM_001371452.1:c.-41-481_-41-479del
NM_001371453.1:c.-186_-184del
NM_001371454.1:c.-186_-184del
NM_001371455.1:c.-186_-184del
NM_001371456.1:c.-186_-184del
NM_001374085.1:c.291_293del
NM_001374086.1:c.-186_-184del
NM_004328.5:c.291_293del
NP_001073335.1:p.Val98del
NP_001244271.1:p.Val98del
NP_001244272.1:p.Val98del
NP_001244273.1:p.Val98del
NP_001307646.1:p.Val98del
NP_001358372.1:p.Val98del
NP_001358373.1:p.Val98del
NP_001358375.1:p.Val98del
NP_001358376.1:p.Val98del
NP_001358377.1:p.Val98del
NP_001358378.1:p.Val98del
NP_001358379.1:p.Val98del
NP_001361014.1:p.Val98del
NP_004319.1:p.Val98del
LRG_539:g.6623_6625del
NC_000002.11:g.219526001_219526003del
NM_004328.4:c.291_293delTGT
NR_163955.1:n.1303_1305del

Protein change:

V98del

Links:

dbSNP: rs1293818477

NCBI 1000 Genomes Browser:

rs1293818477

Molecular consequence:

NM_001371453.1:c.-186_-184del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371454.1:c.-186_-184del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371455.1:c.-186_-184del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371456.1:c.-186_-184del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001374086.1:c.-186_-184del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001079866.2:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257342.2:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257343.2:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257344.2:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001320717.2:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371443.1:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371444.1:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371446.1:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371447.1:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371448.1:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371449.1:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371450.1:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374085.1:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004328.5:c.291_293del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318836.2:c.-40-128_-40-126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001371451.1:c.-40-128_-40-126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001371452.1:c.-41-481_-41-479del - intron variant - [Sequence Ontology: SO:0001627]
NR_163955.1:n.1303_1305del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000795290	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 2, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000795290

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Nov 2, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000795290.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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