NM_001202.6(BMP4):c.*148_*149insAT AND not provided

NM_001202.6(BMP4):c.148_149insAT AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 15, 2019
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:: RCV001723897.2

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001949537	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 15, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001949537

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 15, 2019)

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

Details of each submission

From GeneDx, SCV001949537.2

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 2, 2023

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