U.S. flag

An official website of the United States government

GRCh38/hg38 15q13.2(chr15:30097840-30527284) AND Diaphragmatic hernia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 27, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001823061.1

Allele description [Variation Report for GRCh38/hg38 15q13.2(chr15:30097840-30527284)]

GRCh38/hg38 15q13.2(chr15:30097840-30527284)

Genes:
  • LOC106736464:15q13.2 beta inversion proximal recombination region [Gene]
  • CHRFAM7A:CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion [Gene - OMIM - HGNC]
  • LOC100996413:WAS/WASL-interacting protein family member 3-like [Gene]
  • GOLGA8R:golgin A8 family member R [Gene - HGNC]
  • GOLGA8T:golgin A8 family member T [Gene - HGNC]
  • LINC02249:long intergenic non-protein coding RNA 2249 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
15q13.2
Genomic location:
Chr15: 30097840 - 30527284 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 15q13.2(chr15:30097840-30527284)
HGVS:
NC_000015.10:g.(?_30097840)_(30527284_?)del
Observations:
1

Condition(s)

Name:
Diaphragmatic hernia
Identifiers:
MeSH: D006548; MedGen: C0019284

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
SCV002072604Daryl Scott Lab, Baylor College of Medicine
no assertion criteria provided
Uncertain significance
(Jan 27, 2022) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV002072604.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023