NM_000071.3(CBS):c.667-10_667-7del AND Classic homocystinuria

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 29, 2020
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:: RCV000473352.16

Allele description [Variation Report for NM_000071.3(CBS):c.667-10_667-7del]

NM_000071.3(CBS):c.667-10_667-7del

Gene:

CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_000071.3(CBS):c.667-10_667-7del

HGVS:

NC_000021.8:g.44485392_44485395delAAGA
NC_000021.9:g.43065282_43065285del
NG_008938.1:g.15649_15652del
NM_000071.3:c.667-10_667-7delMANE SELECT
NM_001178008.3:c.667-10_667-7del
NM_001178009.3:c.667-10_667-7del
NM_001320298.2:c.667-10_667-7del
NM_001321072.1:c.352-10_352-7del
LRG_777t1:c.667-10_667-7del
LRG_777:g.15649_15652del
NC_000021.8:g.44485389_44485392del
NC_000021.8:g.44485392_44485395del
NC_000021.8:g.44485392_44485395delAAGA
NM_000071.2:c.667-10_667-7del
NM_000071.2:c.667-10_667-7del
NM_000071.2:c.667-10_667-7delTTCT
NM_000071.3:c.667-10_667-7delTTCTMANE SELECT
NM_001178008.2:c.667-10_667-7del

Links:

dbSNP: rs376011228

NCBI 1000 Genomes Browser:

rs376011228

Molecular consequence:

NM_000071.3:c.667-10_667-7del - intron variant - [Sequence Ontology: SO:0001627]
NM_001178008.3:c.667-10_667-7del - intron variant - [Sequence Ontology: SO:0001627]
NM_001178009.3:c.667-10_667-7del - intron variant - [Sequence Ontology: SO:0001627]
NM_001320298.2:c.667-10_667-7del - intron variant - [Sequence Ontology: SO:0001627]
NM_001321072.1:c.352-10_352-7del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Classic homocystinuria
Synonyms:: HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE; Homocystinuria due to CBS deficiency; Homocystinuria due to cystathionine beta-synthase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009352; MedGen: C0751202; Orphanet: 394; OMIM: 236200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001455977	Natera, Inc.	no assertion criteria provided	Likely benign (Apr 29, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001455977

Natera, Inc.

no assertion criteria provided

Likely benign
(Apr 29, 2020)

germline

clinical testing

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 Natera, Inc., SCV001455977.1

#	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: Oct 26, 2024

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