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NC_000004.12:g.1_705161del AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 3, 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:
RCV001420673.1

Allele description [Variation Report for NC_000004.12:g.1_705161del]

NC_000004.12:g.1_705161del

Genes:
  • LOC129991944:ATAC-STARR-seq lymphoblastoid active region 21123 [Gene]
  • LOC129991945:ATAC-STARR-seq lymphoblastoid active region 21124 [Gene]
  • LOC129991946:ATAC-STARR-seq lymphoblastoid active region 21125 [Gene]
  • LOC129991949:ATAC-STARR-seq lymphoblastoid active region 21127 [Gene]
  • LOC129991951:ATAC-STARR-seq lymphoblastoid active region 21129 [Gene]
  • LOC129991954:ATAC-STARR-seq lymphoblastoid active region 21131 [Gene]
  • LOC129991955:ATAC-STARR-seq lymphoblastoid active region 21132 [Gene]
  • LOC129991947:ATAC-STARR-seq lymphoblastoid silent region 15096 [Gene]
  • LOC129991948:ATAC-STARR-seq lymphoblastoid silent region 15097 [Gene]
  • LOC129991950:ATAC-STARR-seq lymphoblastoid silent region 15098 [Gene]
  • LOC129991952:ATAC-STARR-seq lymphoblastoid silent region 15102 [Gene]
  • LOC129991953:ATAC-STARR-seq lymphoblastoid silent region 15103 [Gene]
  • ATP5ME:ATP synthase membrane subunit e [Gene - OMIM - HGNC]
  • LOC126806939:BRD4-independent group 4 enhancer GRCh37_chr4:581897-583096 [Gene]
  • PDE6B-AS1:PDE6B antisense RNA 1 [Gene - HGNC]
  • MIR571:microRNA 571 [Gene - HGNC]
  • MYL5:myosin light chain 5 [Gene - OMIM - HGNC]
  • PIGG:phosphatidylinositol glycan anchor biosynthesis class G [Gene - OMIM - HGNC]
  • PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
  • SLC49A3:solute carrier family 49 member 3 [Gene - OMIM - HGNC]
  • TMEM271:transmembrane protein 271 [Gene - HGNC]
  • LOC105374338:uncharacterized LOC105374338 [Gene]
  • ZNF141:zinc finger protein 141 [Gene - OMIM - HGNC]
  • ZNF595:zinc finger protein 595 [Gene - HGNC]
  • ZNF718:zinc finger protein 718 [Gene - HGNC]
  • ZNF721:zinc finger protein 721 [Gene - HGNC]
  • ZNF732:zinc finger protein 732 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
4p16.3
Genomic location:
Chr4: 1 - 705161 (on Assembly GRCh38)
Preferred name:
NC_000004.12:g.1_705161del
HGVS:
NC_000004.12:g.1_705161del
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001623006New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jun 3, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001623006.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023