NM_000071.3(CBS):c.19del (p.Gln7fs) AND Classic homocystinuria

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 23, 2024
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:: RCV003462597.2

Allele description [Variation Report for NM_000071.3(CBS):c.19del (p.Gln7fs)]

NM_000071.3(CBS):c.19del (p.Gln7fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_000071.3(CBS):c.19del (p.Gln7fs)

HGVS:

NC_000021.9:g.43072180del
NG_008938.1:g.8756del
NM_000071.3:c.19delMANE SELECT
NM_001178008.3:c.19del
NM_001178009.3:c.19del
NM_001320298.2:c.19del
NP_000062.1:p.Gln7fs
NP_001171479.1:p.Gln7fs
NP_001171480.1:p.Gln7fs
NP_001307227.1:p.Gln7fs
LRG_777t1:c.19del
LRG_777:g.8756del
NC_000021.8:g.44492285del
NC_000021.8:g.44492290del
NM_000071.2:c.19del

Protein change:

Q7fs

Links:

dbSNP: rs748695461

NCBI 1000 Genomes Browser:

rs748695461

Molecular consequence:

NM_000071.3:c.19del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001178008.3:c.19del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001178009.3:c.19del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320298.2:c.19del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004213860	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 23, 2024)	unknown	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

SCV004213860

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 23, 2024)

unknown

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	unknown	unknown	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 Baylor Genetics, SCV004213860.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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