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NC_000012.12:g.(?_63595966)_(63596037_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 11, 2020
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:
RCV001032351.8

Allele description [Variation Report for NC_000012.12:g.(?_63595966)_(63596037_?)del]

NC_000012.12:g.(?_63595966)_(63596037_?)del

Gene:
DPY19L2:dpy-19 like 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q14.2
Genomic location:
Chr12: 63989746 - 63989817 (on Assembly GRCh37)
Preferred name:
NC_000012.12:g.(?_63595966)_(63596037_?)del
HGVS:
  • NC_000012.12:g.(?_63595966)_(63596037_?)del
  • NC_000012.11:g.(?_63989746)_(63989817_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001195658Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 11, 2020) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia.

Chianese C, Fino MG, Riera Escamilla A, López Rodrigo O, Vinci S, Guarducci E, Daguin F, Muratori M, Tamburrino L, Lo Giacco D, Ars E, Bassas L, Costa M, Pisatauro V, Noci I, Coccia E, Provenzano A, Ruiz-Castañé E, Giglio S, Piomboni P, Krausz C.

Andrology. 2015 Mar;3(2):203-12. doi: 10.1111/andr.12016. Epub 2015 Mar 6.

PubMed [citation]
PMID:
25755131

Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping.

Modarres P, Tanhaei S, Tavalaee M, Ghaedi K, Deemeh MR, Nasr-Esfahani MH.

Int J Fertil Steril. 2016 Jul-Sep;10(2):196-207. Epub 2016 Jun 1.

PubMed [citation]
PMID:
27441053
PMCID:
PMC4948072
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001195658.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the DPY19L2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Whole gene deletions of DPY19L2 have been reported in individuals affected with globozoospermia (PMID: 25755131, 27441053). Loss-of-function variants in DPY19L2 are known to be pathogenic (PMID: 22627659, 22653751). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024