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NC_000008.10:g.(?_41518984)_(43054712_?)dup AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV003109566.6

Allele description [Variation Report for NC_000008.10:g.(?_41518984)_(43054712_?)dup]

NC_000008.10:g.(?_41518984)_(43054712_?)dup

Genes:
  • POLB:DNA polymerase beta [Gene - OMIM - HGNC]
  • THAP1:THAP domain containing 1 [Gene - OMIM - HGNC]
  • AP3M2:adaptor related protein complex 3 subunit mu 2 [Gene - OMIM - HGNC]
  • ANK1:ankyrin 1 [Gene - OMIM - HGNC]
  • CHRNA6:cholinergic receptor nicotinic alpha 6 subunit [Gene - OMIM - HGNC]
  • CHRNB3:cholinergic receptor nicotinic beta 3 subunit [Gene - OMIM - HGNC]
  • DKK4:dickkopf WNT signaling pathway inhibitor 4 [Gene - OMIM - HGNC]
  • FNTA:farnesyltransferase, CAAX box, subunit alpha [Gene - OMIM - HGNC]
  • HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
  • HOOK3:hook microtubule tethering protein 3 [Gene - OMIM - HGNC]
  • IKBKB:inhibitor of nuclear factor kappa B kinase subunit beta [Gene - OMIM - HGNC]
  • KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]
  • PLAT:plasminogen activator, tissue type [Gene - OMIM - HGNC]
  • POMK:protein O-mannose kinase [Gene - OMIM - HGNC]
  • RNF170:ring finger protein 170 [Gene - OMIM - HGNC]
  • SMIM19:small integral membrane protein 19 [Gene - HGNC]
  • SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]
  • VDAC3:voltage dependent anion channel 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8p11.21
Genomic location:
Chr8: 41518984 - 43054712 (on Assembly GRCh37)
Preferred name:
NC_000008.10:g.(?_41518984)_(43054712_?)dup
HGVS:
NC_000008.10:g.(?_41518984)_(43054712_?)dup

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV003791549.2

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

Description

A copy number gain of the genomic region encompassing the full coding sequence of the KAT6A 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. This variant has not been reported in the literature in individuals affected with KAT6A-related conditions. 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.

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003791549Labcorp Genetics (formerly Invitae), Labcorp
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV003791549 appears to be redundant with SCV003795137.

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 2, 2022) 		germlineclinical testing

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

Last Updated: Sep 29, 2024