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NM_005522.5(HOXA1):c.215_223del (p.His72_His74del) AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Jun 1, 2022
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:
RCV001572891.10

Allele description

NM_005522.5(HOXA1):c.215_223del (p.His72_His74del)

Gene:
HOXA1:homeobox A1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_005522.5(HOXA1):c.215_223del (p.His72_His74del)
HGVS:
  • NC_000007.14:g.27095695_27095703del
  • NG_011813.1:g.5309_5317del
  • NG_033087.1:g.4604_4612del
  • NM_005522.5:c.215_223delMANE SELECT
  • NM_153620.3:c.215_223del
  • NP_005513.2:p.His72_His74del
  • NP_705873.3:p.His72_His74del
  • NC_000007.13:g.27135314_27135322del
Links:
dbSNP: rs544314279
NCBI 1000 Genomes Browser:
rs544314279
Molecular consequence:
  • NM_005522.5:c.215_223del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_153620.3:c.215_223del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

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
SCV001797955Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV004163856CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Jun 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001797955.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV004163856.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

HOXA1: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024