NC_000006.11:g.(?_30695893)_(31937492_?)dup AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 24, 2022
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:: RCV003107453.5

Allele description [Variation Report for NC_000006.11:g.(?_30695893)_(31937492_?)dup]

NC_000006.11:g.(?_30695893)_(31937492_?)dup

Genes:

ATP6V1G2:ATPase H+ transporting V1 subunit G2 [Gene - OMIM - HGNC]
BAG6:BAG cochaperone 6 [Gene - OMIM - HGNC]
DDAH2:DDAH family member 2, ADMA-independent [Gene - OMIM - HGNC]
DDX39B:DExD-box helicase 39B [Gene - OMIM - HGNC]
GPANK1:G-patch domain and ankyrin repeats 1 [Gene - OMIM - HGNC]
HCP5:HLA complex P5 [Gene - OMIM - HGNC]
HCG22:HLA complex group 22 (non-protein coding) [Gene - OMIM - HGNC]
HCG26:HLA complex group 26 [Gene - HGNC]
LSM2:LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
MICA:MHC class I polypeptide-related sequence A [Gene - OMIM - HGNC]
MICB:MHC class I polypeptide-related sequence B [Gene - OMIM - HGNC]
NFKBIL1:NFKB inhibitor like 1 [Gene - OMIM - HGNC]
POU5F1:POU class 5 homeobox 1 [Gene - OMIM - HGNC]
SKIC2:SKI2 subunit of superkiller complex [Gene - OMIM - HGNC]
ABHD16A:abhydrolase domain containing 16A, phospholipase [Gene - OMIM - HGNC]
AIF1:allograft inflammatory factor 1 [Gene - OMIM - HGNC]
APOM:apolipoprotein M [Gene - OMIM - HGNC]
CSNK2B:casein kinase 2 beta [Gene - OMIM - HGNC]
CLIC1:chloride intracellular channel 1 [Gene - OMIM - HGNC]
C6orf15:chromosome 6 open reading frame 15 [Gene - OMIM - HGNC]
C6orf47:chromosome 6 open reading frame 47 [Gene - HGNC]
CCHCR1:coiled-coil alpha-helical rod protein 1 [Gene - OMIM - HGNC]
C2:complement C2 [Gene - OMIM - HGNC]
CFB:complement factor B [Gene - OMIM - HGNC]
CDSN:corneodesmosin [Gene - OMIM - HGNC]
DDR1:discoidin domain receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
EHMT2:euchromatic histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
FLOT1:flotillin 1 [Gene - OMIM - HGNC]
GTF2H4:general transcription factor IIH subunit 4 [Gene - OMIM - HGNC]
HSPA1L:heat shock protein family A (Hsp70) member 1 like [Gene - OMIM - HGNC]
HSPA1A:heat shock protein family A (Hsp70) member 1A [Gene - OMIM - HGNC]
HSPA1B:heat shock protein family A (Hsp70) member 1B [Gene - OMIM - HGNC]
IER3:immediate early response 3 [Gene - OMIM - HGNC]
LST1:leukocyte specific transcript 1 [Gene - OMIM - HGNC]
LY6G5B:lymphocyte antigen 6 family member G5B [Gene - OMIM - HGNC]
LY6G5C:lymphocyte antigen 6 family member G5C [Gene - OMIM - HGNC]
LY6G6C:lymphocyte antigen 6 family member G6C [Gene - OMIM - HGNC]
LY6G6D:lymphocyte antigen 6 family member G6D [Gene - OMIM - HGNC]
LY6G6F:lymphocyte antigen 6 family member G6F [Gene - OMIM - HGNC]
LTA:lymphotoxin alpha [Gene - OMIM - HGNC]
LTB:lymphotoxin beta [Gene - OMIM - HGNC]
HLA-B:major histocompatibility complex, class I, B [Gene - OMIM - HGNC]
HLA-C:major histocompatibility complex, class I, C [Gene - OMIM - HGNC]
MPIG6B:megakaryocyte and platelet inhibitory receptor G6b [Gene - OMIM - HGNC]
MCCD1:mitochondrial coiled-coil domain 1 [Gene - OMIM - HGNC]
MUC21:mucin 21, cell surface associated [Gene - OMIM - HGNC]
MUC22:mucin 22 [Gene - OMIM - HGNC]
MUCL3:mucin like 3 [Gene - OMIM - HGNC]
MSH5:mutS homolog 5 [Gene - OMIM - HGNC]
NCR3:natural cytotoxicity triggering receptor 3 [Gene - OMIM - HGNC]
NELFE:negative elongation factor complex member E [Gene - OMIM - HGNC]
NEU1:neuraminidase 1 [Gene - OMIM - HGNC]
PRRC2A:proline rich coiled-coil 2A [Gene - OMIM - HGNC]
PSORS1C1:psoriasis susceptibility 1 candidate 1 [Gene - OMIM - HGNC]
PSORS1C2:psoriasis susceptibility 1 candidate 2 [Gene - OMIM - HGNC]
SNHG32:small nucleolar RNA host gene 32 [Gene - OMIM - HGNC]
SLC44A4:solute carrier family 44 member 4 [Gene - OMIM - HGNC]
SAPCD1:suppressor APC domain containing 1 [Gene - HGNC]
SFTA2:surfactant associated 2 [Gene - HGNC]
TCF19:transcription factor 19 [Gene - OMIM - HGNC]
TNF:tumor necrosis factor [Gene - OMIM - HGNC]
VARS1:valyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
VARS2:valyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
VWA7:von Willebrand factor A domain containing 7 [Gene - OMIM - HGNC]
ZBTB12:zinc finger and BTB domain containing 12 [Gene - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p21.33

Genomic location:

Chr6: 30695893 - 31937492 (on Assembly GRCh37)

Preferred name:

NC_000006.11:g.(?_30695893)_(31937492_?)dup

HGVS:

NC_000006.11:g.(?_30695893)_(31937492_?)dup

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003793636	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 24, 2022)	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

SCV003793636

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 24, 2022)

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, SCV003793636.3

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

Description

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. This variant has not been reported in the literature in individuals affected with CFB-related conditions. A copy number gain of the genomic region encompassing the full coding sequence of the CFB gene has been identified. 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.

#	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

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Relating variation to medicine