NC_000008.10:g.(?_144990325)_(145700664_?)dup AND Brown-Vialetto-van Laere syndrome 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 20, 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:: RCV000808636.2

Allele description [Variation Report for NC_000008.10:g.(?_144990325)_(145700664_?)dup]

NC_000008.10:g.(?_144990325)_(145700664_?)dup

Genes:

OPLAH:5-oxoprolinase, ATP-hydrolysing [Gene - OMIM - HGNC]
BOP1:BOP1 ribosomal biogenesis factor [Gene - OMIM - HGNC]
FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]
HGH1:HGH1 homolog [Gene - OMIM - HGNC]
MAF1:MAF1 homolog, negative regulator of RNA polymerase III [Gene - OMIM - HGNC]
SHARPIN:SHANK associated RH domain interactor [Gene - OMIM - HGNC]
VPS28:VPS28 subunit of ESCRT-I [Gene - OMIM - HGNC]
ADCK5:aarF domain containing kinase 5 [Gene - HGNC]
CPSF1:cleavage and polyadenylation specific factor 1 [Gene - OMIM - HGNC]
CYC1:cytochrome c1 [Gene - OMIM - HGNC]
DGAT1:diacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
EXOSC4:exosome component 4 [Gene - OMIM - HGNC]
FOXH1:forkhead box H1 [Gene - OMIM - HGNC]
GRINA:glutamate ionotropic receptor NMDA type subunit associated protein 1 [Gene - OMIM - HGNC]
GPAA1:glycosylphosphatidylinositol anchor attachment 1 [Gene - OMIM - HGNC]
HSF1:heat shock transcription factor 1 [Gene - OMIM - HGNC]
KIFC2:kinesin family member C2 [Gene - OMIM - HGNC]
MROH1:maestro heat like repeat family member 1 [Gene - HGNC]
MIR1234:microRNA 1234 [Gene - HGNC]
MIR661:microRNA 661 [Gene - OMIM - HGNC]
PLEC:plectin [Gene - OMIM - HGNC]
PARP10:poly(ADP-ribose) polymerase family member 10 [Gene - OMIM - HGNC]
SCX:scleraxis bHLH transcription factor [Gene - OMIM - HGNC]
SCRT1:scratch family transcriptional repressor 1 [Gene - OMIM - HGNC]
SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]
SPATC1:spermatogenesis and centriole associated 1 [Gene - OMIM - HGNC]
TONSL:tonsoku like, DNA repair protein [Gene - OMIM - HGNC]
TMEM249:transmembrane protein 249 [Gene - HGNC]
ZFTRAF1:zinc finger TRAF-type containing 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

8q24.3

Genomic location:

Chr8: 144990325 - 145700664 (on Assembly GRCh37)

Preferred name:

NC_000008.10:g.(?_144990325)_(145700664_?)dup

HGVS:

NC_000008.10:g.(?_144990325)_(145700664_?)dup

Condition(s)

Name:: Brown-Vialetto-van Laere syndrome 2
Synonyms:: Riboflavin transporter deficiency type 2
Identifiers:: MONDO: MONDO:0013867; MedGen: C3553538; Orphanet: 97229; OMIM: 614707

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000948750	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 20, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000948750

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 20, 2018)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV000948750.1

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

Description

This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the SLC52A2 gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with SLC52A2-related disease. Experimental studies are not available for this variant, and the functional significance of a copy number gain of this gene is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine