NM_000071.3(CBS):c.667-10_667-7del AND not specified

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jul 28, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000486155.13

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000572399	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Dec 6, 2016)	germline	clinical testing	Citation Link,
SCV005202380	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jul 28, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000572399

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Dec 6, 2016)

germline

clinical testing

Citation Link,

SCV005202380

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jul 28, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000572399.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005202380.1

#	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

ClinVar

Relating variation to medicine