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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001887362	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 3, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001887362

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Mar 3, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001887362.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine