NM_001379200.1(TBX1):c.1380T>C (p.His460=) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Jun 24, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000618894.1

Allele description [Variation Report for NM_001379200.1(TBX1):c.1380T>C (p.His460=)]

NM_001379200.1(TBX1):c.1380T>C (p.His460=)

Gene:
TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_001379200.1(TBX1):c.1380T>C (p.His460=)
HGVS:
  • NC_000022.11:g.19766732T>C
  • NG_009229.1:g.15030T>C
  • NM_001379200.1:c.1380T>CMANE SELECT
  • NM_005992.1:c.1009+730T>C
  • NM_080646.2:c.1009+730T>C
  • NM_080647.1:c.1353T>C
  • NP_001366129.1:p.His460=
  • NP_542378.1:p.His451=
  • LRG_226t1:c.1353T>C
  • LRG_226:g.15030T>C
  • LRG_226p1:p.His451=
  • NC_000022.10:g.19754255T>C
Links:
dbSNP: rs367711718
NCBI 1000 Genomes Browser:
rs367711718
Molecular consequence:
  • NM_005992.1:c.1009+730T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080646.2:c.1009+730T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379200.1:c.1380T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_080647.1:c.1353T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000735077Ambry Geneticscriteria provided, single submitter
Likely benign
(Jun 24, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000735077.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 5, 2021

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