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NM_001184.4(ATR):c.4383-47A>G AND not specified

Germline classification:
Likely benign (1 submission)
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:
RCV000145312.7

Allele description [Variation Report for NM_001184.4(ATR):c.4383-47A>G]

NM_001184.4(ATR):c.4383-47A>G

Gene:
ATR:ATR serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q23
Genomic location:
Preferred name:
NM_001184.4(ATR):c.4383-47A>G
HGVS:
  • NC_000003.12:g.142515562T>C
  • NG_008951.1:g.68265A>G
  • NM_001184.4:c.4383-47A>GMANE SELECT
  • NM_001354579.2:c.4191-47A>G
  • LRG_1403t1:c.4383-47A>G
  • LRG_1403:g.68265A>G
  • NC_000003.11:g.142234404T>C
  • NM_001184.3:c.4383-47A>G
Links:
dbSNP: rs58348002
NCBI 1000 Genomes Browser:
rs58348002
Molecular consequence:
  • NM_001184.4:c.4383-47A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354579.2:c.4191-47A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000192389Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000192389.1

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

Last Updated: Sep 29, 2024