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NM_000071.3(CBS):c.1468-6T>G AND Classic homocystinuria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 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:
RCV001045965.3

Allele description [Variation Report for NM_000071.3(CBS):c.1468-6T>G]

NM_000071.3(CBS):c.1468-6T>G

Gene:
CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000071.3(CBS):c.1468-6T>G
HGVS:
  • NC_000021.9:g.43056893A>C
  • NG_008938.1:g.24038T>G
  • NM_000071.3:c.1468-6T>GMANE SELECT
  • NM_001178008.3:c.1468-6T>G
  • NM_001178009.3:c.1468-6T>G
  • NM_001320298.2:c.1468-6T>G
  • NM_001321072.1:c.1153-6T>G
  • LRG_777t1:c.1468-6T>G
  • LRG_777:g.24038T>G
  • NC_000021.8:g.44477003A>C
  • NC_000021.8:g.44477003A>C
  • NM_000071.2:c.1468-6T>G
Links:
dbSNP: rs771250766
NCBI 1000 Genomes Browser:
rs771250766
Molecular consequence:
  • NM_000071.3:c.1468-6T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178008.3:c.1468-6T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178009.3:c.1468-6T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320298.2:c.1468-6T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321072.1:c.1153-6T>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001461059Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001461059.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024