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NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 19, 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:
RCV002348094.2

Allele description [Variation Report for NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del)]

NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del)

Gene:
CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del)
HGVS:
  • NC_000021.9:g.43059248CCT[2]
  • NG_008938.1:g.21676GGA[2]
  • NM_000071.3:c.1194GGA[2]MANE SELECT
  • NM_001178008.3:c.1194GGA[2]
  • NM_001178009.3:c.1194GGA[2]
  • NM_001320298.2:c.1194GGA[2]
  • NM_001321072.1:c.879GGA[2]
  • NP_000062.1:p.Glu400del
  • NP_001171479.1:p.Glu400del
  • NP_001171480.1:p.Glu400del
  • NP_001307227.1:p.Glu400del
  • NP_001308001.1:p.Glu295del
  • LRG_777:g.21676GGA[2]
  • NC_000021.8:g.44479358CCT[2]
  • NM_000071.2:c.1200_1202delGGA
Protein change:
E295del
Links:
dbSNP: rs745438246
NCBI 1000 Genomes Browser:
rs745438246
Molecular consequence:
  • NM_000071.3:c.1194GGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001178008.3:c.1194GGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001178009.3:c.1194GGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001320298.2:c.1194GGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001321072.1:c.879GGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002650974Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 19, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002650974.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1200_1202delGGA variant (also known as p.E400del) is located in coding exon 11 of the CBS gene. This variant results from an in-frame GGA deletion at nucleotide positions 1200 to 1202. This results in the in-frame deletion of a glutamic acid at codon 400. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024