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NM_006118.4(HAX1):c.-53_-52delinsT AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 3, 2015
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:
RCV001669482.2

Allele description [Variation Report for NM_006118.4(HAX1):c.-53_-52delinsT]

NM_006118.4(HAX1):c.-53_-52delinsT

Genes:
LOC129931498:ATAC-STARR-seq lymphoblastoid active region 1775 [Gene]
HAX1:HCLS1 associated protein X-1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_006118.4(HAX1):c.-53_-52delinsT
HGVS:
  • NC_000001.11:g.154272671_154272672delinsT
  • NG_007369.1:g.5109_5110delinsT
  • NM_001018837.2:c.-53_-52delinsT
  • NM_006118.4:c.-53_-52delinsTMANE SELECT
  • LRG_64:g.5109_5110delinsT
  • NC_000001.10:g.154245147_154245148delinsT
Links:
dbSNP: rs2149138417
NCBI 1000 Genomes Browser:
rs2149138417
Molecular consequence:
  • NM_001018837.2:c.-53_-52delinsT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_006118.4:c.-53_-52delinsT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001887362GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001887362.1

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

Last Updated: Dec 24, 2023