U.S. flag

An official website of the United States government

NC_000023.10:g.(?_14861689)_(15870650_?)dup AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 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:
RCV003105405.4

Allele description [Variation Report for NC_000023.10:g.(?_14861689)_(15870650_?)dup]

NC_000023.10:g.(?_14861689)_(15870650_?)dup

Genes:
  • BMX:BMX non-receptor tyrosine kinase [Gene - OMIM - HGNC]
  • FANCB:FA complementation group B [Gene - OMIM - HGNC]
  • AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]
  • ACE2:angiotensin converting enzyme 2 [Gene - OMIM - HGNC]
  • ASB11:ankyrin repeat and SOCS box containing 11 [Gene - OMIM - HGNC]
  • ASB9:ankyrin repeat and SOCS box containing 9 [Gene - OMIM - HGNC]
  • CA5B:carbonic anhydrase 5B [Gene - OMIM - HGNC]
  • CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
  • INE2:inactivation escape 2 [Gene - OMIM - HGNC]
  • MOSPD2:motile sperm domain containing 2 [Gene - OMIM - HGNC]
  • PIGA:phosphatidylinositol glycan anchor biosynthesis class A [Gene - OMIM - HGNC]
  • PIR:pirin [Gene - OMIM - HGNC]
  • VEGFD:vascular endothelial growth factor D [Gene - OMIM - HGNC]
  • ZRSR2:zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp22.2
Genomic location:
ChrX: 14861689 - 15870650 (on Assembly GRCh37)
Preferred name:
NC_000023.10:g.(?_14861689)_(15870650_?)dup
HGVS:
NC_000023.10:g.(?_14861689)_(15870650_?)dup

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003792540Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 12, 2022) 		germlineclinical testing

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

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, SCV003792540.2

#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 AP1S2 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 AP1S2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.

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

Last Updated: Sep 29, 2024