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NM_014739.3(BCLAF1):c.813G>T (p.Arg271Ser) AND Pulmonary artery atresia

Germline classification:
Pathogenic (1 submission)
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:
RCV002512188.1

Allele description [Variation Report for NM_014739.3(BCLAF1):c.813G>T (p.Arg271Ser)]

NM_014739.3(BCLAF1):c.813G>T (p.Arg271Ser)

Gene:
BCLAF1:BCL2 associated transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_014739.3(BCLAF1):c.813G>T (p.Arg271Ser)
HGVS:
  • NC_000006.12:g.136278068C>A
  • NM_001077440.3:c.807G>T
  • NM_001077441.3:c.813G>T
  • NM_001301038.3:c.807G>T
  • NM_001363659.3:c.813G>T
  • NM_001386693.1:c.813G>T
  • NM_001386694.1:c.813G>T
  • NM_001386695.1:c.813G>T
  • NM_001386696.1:c.807G>T
  • NM_001386697.1:c.813G>T
  • NM_001386698.1:c.807G>T
  • NM_001386699.1:c.813G>T
  • NM_001386700.1:c.813G>T
  • NM_001386701.1:c.813G>T
  • NM_001386702.1:c.813G>T
  • NM_001386703.1:c.807G>T
  • NM_001386704.1:c.813G>T
  • NM_014739.3:c.813G>TMANE SELECT
  • NP_001070908.1:p.Arg269Ser
  • NP_001070909.1:p.Arg271Ser
  • NP_001287967.1:p.Arg269Ser
  • NP_001350588.1:p.Arg271Ser
  • NP_001373622.1:p.Arg271Ser
  • NP_001373623.1:p.Arg271Ser
  • NP_001373624.1:p.Arg271Ser
  • NP_001373625.1:p.Arg269Ser
  • NP_001373626.1:p.Arg271Ser
  • NP_001373627.1:p.Arg269Ser
  • NP_001373628.1:p.Arg271Ser
  • NP_001373629.1:p.Arg271Ser
  • NP_001373630.1:p.Arg271Ser
  • NP_001373631.1:p.Arg271Ser
  • NP_001373632.1:p.Arg269Ser
  • NP_001373633.1:p.Arg271Ser
  • NP_055554.1:p.Arg271Ser
  • NC_000006.11:g.136599206C>A
  • NR_170164.1:n.1061G>T
  • NR_170165.1:n.1061G>T
  • NR_170166.1:n.1055G>T
  • NR_170167.1:n.1061G>T
  • NR_170168.1:n.1061G>T
  • NR_170169.1:n.1061G>T
  • NR_170170.1:n.1061G>T
Protein change:
R269S
Molecular consequence:
  • NM_001077440.3:c.807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077441.3:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301038.3:c.807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363659.3:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386693.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386694.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386695.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386696.1:c.807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386697.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386698.1:c.807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386699.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386700.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386701.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386702.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386703.1:c.807G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386704.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014739.3:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_170164.1:n.1061G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170165.1:n.1061G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170166.1:n.1055G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170167.1:n.1061G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170168.1:n.1061G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170169.1:n.1061G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170170.1:n.1061G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Pulmonary artery atresia
Identifiers:
MedGen: C0265908; Human Phenotype Ontology: HP:0004935

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002549069Henan Key Laboratory of Chronic Disease Management, Central China Fuwai Hospital of Zhengzhou University, Fuwai Central China Cardiovascular Hospital & Central China Branch of National Center for Cardiovascular Diseases
no assertion criteria provided
Pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Henan Key Laboratory of Chronic Disease Management, Central China Fuwai Hospital of Zhengzhou University, Fuwai Central China Cardiovascular Hospital & Central China Branch of National Center for Cardiovascular Diseases, SCV002549069.1

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

Last Updated: Feb 7, 2023