NM_001112704.2(VAX1):c.212del (p.Pro71fs) AND Microphthalmia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 15, 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:: RCV002291340.1

Allele description [Variation Report for NM_001112704.2(VAX1):c.212del (p.Pro71fs)]

NM_001112704.2(VAX1):c.212del (p.Pro71fs)

Gene:

VAX1:ventral anterior homeobox 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q25.3

Genomic location:

Preferred name:

NM_001112704.2(VAX1):c.212del (p.Pro71fs)

HGVS:

NC_000010.11:g.117137847del
NG_012317.1:g.5457del
NM_001112704.2:c.212delMANE SELECT
NM_199131.3:c.212del
NP_001106175.1:p.Pro71fs
NP_954582.1:p.Pro71fs
NC_000010.10:g.118897358del
NM_001112704.1:c.212delC

Protein change:

P71fs

Molecular consequence:

NM_001112704.2:c.212del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_199131.3:c.212del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Microphthalmia
Synonyms:: Microphthalmos
Identifiers:: MONDO: MONDO:0021129; MedGen: C0026010; Human Phenotype Ontology: HP:0000568

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002583608	Genetics Department, University Hospital of Toulouse	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 15, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002583608

Genetics Department, University Hospital of Toulouse

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 15, 2022)

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetics Department, University Hospital of Toulouse, SCV002583608.1

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

Description

LP (PVS1, PM2). variant was found heterozygous without a second (likely) pathogenic variant in the gene, parental segregation not performed.

#	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: Oct 22, 2022

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