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NM_003200.5(TCF3):c.473G>A (p.Arg158Gln) AND Agammaglobulinemia 8, autosomal dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 21, 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:
RCV001267798.1

Allele description [Variation Report for NM_003200.5(TCF3):c.473G>A (p.Arg158Gln)]

NM_003200.5(TCF3):c.473G>A (p.Arg158Gln)

Gene:
TCF3:transcription factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_003200.5(TCF3):c.473G>A (p.Arg158Gln)
HGVS:
  • NC_000019.10:g.1625602C>T
  • NG_029953.2:g.31945G>A
  • NM_001136139.4:c.473G>A
  • NM_001351778.2:c.473G>A
  • NM_001351779.2:c.473G>A
  • NM_003200.5:c.473G>AMANE SELECT
  • NP_001129611.1:p.Arg158Gln
  • NP_001338707.1:p.Arg158Gln
  • NP_001338708.1:p.Arg158Gln
  • NP_003191.1:p.Arg158Gln
  • LRG_1325t1:c.473G>A
  • LRG_1325t2:c.473G>A
  • LRG_1325:g.31945G>A
  • LRG_1325p1:p.Arg158Gln
  • LRG_1325p2:p.Arg158Gln
  • NC_000019.9:g.1625601C>T
  • NG_029953.1:g.31728G>A
  • NM_001136139.2:c.473G>A
Protein change:
R158Q
Links:
dbSNP: rs554419240
NCBI 1000 Genomes Browser:
rs554419240
Molecular consequence:
  • NM_001136139.4:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351778.2:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351779.2:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003200.5:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Agammaglobulinemia 8, autosomal dominant (AGM8A)
Synonyms:
AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT; AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0014840; MedGen: C4310786; OMIM: 616941

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424116UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
no assertion criteria provided
Uncertain significance
(May 21, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini, SCV001424116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024