NM_005522.5(HOXA1):c.528TAA[1] (p.Asn178del) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 30, 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:: RCV002860281.2

Allele description [Variation Report for NM_005522.5(HOXA1):c.528TAA[1] (p.Asn178del)]

NM_005522.5(HOXA1):c.528TAA[1] (p.Asn178del)

Gene:

HOXA1:homeobox A1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7p15.2

Genomic location:

Preferred name:

NM_005522.5(HOXA1):c.528TAA[1] (p.Asn178del)

HGVS:

NC_000007.14:g.27095381TAT[1]
NG_011813.1:g.5622TAA[1]
NG_011813.2:g.5615TAA[1]
NG_033087.1:g.4288TAT[1]
NG_033087.2:g.4289TAT[1]
NM_005522.5:c.528TAA[1]MANE SELECT
NM_153620.3:c.355-27_355-25del
NP_005513.2:p.Asn178del
NC_000007.13:g.27135000TAT[1]
NM_005522.4:c.531_533delTAA

Protein change:

N178del

Molecular consequence:

NM_005522.5:c.528TAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_153620.3:c.355-27_355-25del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Homo sapiens clone 2-3 ankyrin 3 splice variant (ANK3) mRNA, partial sequence; a...
Homo sapiens clone 2-3 ankyrin 3 splice variant (ANK3) mRNA, partial sequence; alternatively spliced
gi|126742019|gb|EF139851.1|

Nucleotide
RNA polymerase II subunit A C-terminal domain phosphatase isoform X6 [Homo sapie...
RNA polymerase II subunit A C-terminal domain phosphatase isoform X6 [Homo sapiens]
gi|2462561954|ref|XP_054175325.1|

Protein
tt15f07.x1 NCI_CGAP_GC6 Homo sapiens cDNA clone IMAGE:2240869 3', mRNA sequence
tt15f07.x1 NCI_CGAP_GC6 Homo sapiens cDNA clone IMAGE:2240869 3', mRNA sequence
gi|4984138|gnl|dbEST|2600776|gb|AI6 .1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003630625	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 30, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003630625

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 30, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003630625.2

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

Description

The c.531_533delTAA (p.N178del) alteration is located in exon 1 (coding exon 1) of the HOXA1 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.531 and c.533, resulting in the deletion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine