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NM_001379200.1(TBX1):c.1314C>T (p.Ala438=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 2, 2022
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:
RCV002382014.2

Allele description [Variation Report for NM_001379200.1(TBX1):c.1314C>T (p.Ala438=)]

NM_001379200.1(TBX1):c.1314C>T (p.Ala438=)

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.1314C>T (p.Ala438=)
HGVS:
  • NC_000022.11:g.19766666C>T
  • NG_009229.1:g.14964C>T
  • NM_001379200.1:c.1314C>TMANE SELECT
  • NM_005992.1:c.1009+664C>T
  • NM_080646.2:c.1009+664C>T
  • NM_080647.1:c.1287C>T
  • NP_001366129.1:p.Ala438=
  • NP_542378.1:p.Ala429=
  • LRG_226t1:c.1287C>T
  • LRG_226:g.14964C>T
  • LRG_226p1:p.Ala429=
  • NC_000022.10:g.19754189C>T
Links:
dbSNP: rs574947516
NCBI 1000 Genomes Browser:
rs574947516
Molecular consequence:
  • NM_005992.1:c.1009+664C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080646.2:c.1009+664C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379200.1:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_080647.1:c.1287C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002688987Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 2, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002688987.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024