NM_001202.6(BMP4):c.*148_*149insAT AND Syndromic Microphthalmia, Dominant

NM_001202.6(BMP4):c.148_149insAT AND Syndromic Microphthalmia, Dominant

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 14, 2016
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:: RCV000260248.5

Allele description [Variation Report for NM_001202.6(BMP4):c.148_149insAT]

NM_001202.6(BMP4):c.148_149insAT

Gene:

BMP4:bone morphogenetic protein 4 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

14q22.2

Genomic location:

Preferred name:

NM_001202.6(BMP4):c.*148_*149insAT

HGVS:

NC_000014.9:g.53949883_53949884insAT
NG_009215.1:g.11953_11954insAT
NM_001202.6:c.*148_*149insATMANE SELECT
NM_001347912.1:c.*148_*149insAT
NM_001347913.2:c.*148_*149insAT
NM_001347914.2:c.*148_*149insAT
NM_001347915.2:c.*148_*149insAT
NM_001347916.1:c.*148_*149insAT
NM_001347917.1:c.*148_*149insAT
NM_130850.5:c.*148_*149insAT
NM_130851.4:c.*148_*149insAT
NC_000014.8:g.54416601_54416602insAT
NM_001202.3:c.*148_*149insAT

Links:

dbSNP: rs796563569

NCBI 1000 Genomes Browser:

rs796563569

Molecular consequence:

NM_001202.6:c.*148_*149insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347912.1:c.*148_*149insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347913.2:c.*148_*149insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347914.2:c.*148_*149insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347915.2:c.*148_*149insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347916.1:c.*148_*149insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347917.1:c.*148_*149insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_130850.5:c.*148_*149insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_130851.4:c.*148_*149insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Syndromic Microphthalmia, Dominant
Identifiers:: MedGen: CN239443

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000386962	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV000386972	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000386962

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000386972

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000386962.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Laboratory Services, Illumina, SCV000386972.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 2, 2023

ClinVar

Relating variation to medicine

Allele description [Variation Report for NM_001202.6(BMP4):c.*148_*149insAT]