NM_006735.4(HOXA2):c.670G>T (p.Glu224Ter) AND MICROTIA WITHOUT HEARING IMPAIRMENT

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 20, 2018
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:: RCV000625727.1

Allele description [Variation Report for NM_006735.4(HOXA2):c.670G>T (p.Glu224Ter)]

NM_006735.4(HOXA2):c.670G>T (p.Glu224Ter)

Gene:

HOXA2:homeobox A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.2

Genomic location:

Preferred name:

NM_006735.4(HOXA2):c.670G>T (p.Glu224Ter)

HGVS:

NC_000007.14:g.27101187C>A
NG_012078.1:g.6589G>T
NG_012078.2:g.6589G>T
NG_033087.1:g.10094C>A
NM_006735.4:c.670G>TMANE SELECT
NP_006726.1:p.Glu224Ter
NC_000007.13:g.27140806C>A
NM_006735.3:c.670G>T

Protein change:

E224*; GLU224TER

Links:

OMIM: 604685.0003; dbSNP: rs1554334301

NCBI 1000 Genomes Browser:

rs1554334301

Molecular consequence:

NM_006735.4:c.670G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: MICROTIA WITHOUT HEARING IMPAIRMENT
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000746228	OMIM	no assertion criteria provided	Pathogenic (Apr 20, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000746228

OMIM

no assertion criteria provided

Pathogenic
(Apr 20, 2018)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology.

Piceci F, Morlino S, Castori M, Buffone E, De Luca A, Grammatico P, Guida V.

Clin Genet. 2017 May;91(5):774-779. doi: 10.1111/cge.12845. Epub 2016 Sep 13.

PubMed [citation]

PMID:: 27503514

Details of each submission

From OMIM, SCV000746228.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of a 5-generation Italian family segregating isolated bilateral microtia without hearing loss, Piceci et al. (2017) identified a heterozygous c.670G-T transversion (c.670G-T, NM_006735.3) in exon 2 of the HOXA2 gene, resulting in a glu224-to-ter (E224X) substitution in a conserved region of the protein, that segregated with the trait in the family. The mutation was predicted to result in truncation of 153 amino acids from the C-terminal end of the protein. The mutation, which was found by sequencing the HOXA2 gene and confirmed by Sanger sequencing, was not found in the Exome Variant Server or ExAC databases. No functional studies were performed.

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

Last Updated: Apr 23, 2022

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