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NM_001136139.4(TCF3):c.1643_1649dup (p.Asn551fs) AND Agammaglobulinemia 8b, autosomal recessive

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 30, 2024
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:
RCV004596716.1

Allele description [Variation Report for NM_001136139.4(TCF3):c.1643_1649dup (p.Asn551fs)]

NM_001136139.4(TCF3):c.1643_1649dup (p.Asn551fs)

Gene:
TCF3:transcription factor 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_001136139.4(TCF3):c.1643_1649dup (p.Asn551fs)
HGVS:
  • NC_000019.10:g.1612374_1612380dup
  • NG_029953.2:g.45170_45176dup
  • NM_001136139.4:c.1643_1649dup
  • NM_001351778.2:c.1820-528_1820-522dup
  • NM_001351779.2:c.1643_1649dup
  • NM_003200.5:c.1823-528_1823-522dupMANE SELECT
  • NP_001129611.1:p.Asn551fs
  • NP_001338708.1:p.Asn551fs
  • LRG_1325t1:c.1643_1649dup
  • LRG_1325t2:c.1823-528_1823-522dup
  • LRG_1325:g.45170_45176dup
  • LRG_1325p1:p.Asn551fs
  • NC_000019.9:g.1612373_1612379dup
Protein change:
N551fs
Molecular consequence:
  • NM_001136139.4:c.1643_1649dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351779.2:c.1643_1649dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351778.2:c.1820-528_1820-522dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003200.5:c.1823-528_1823-522dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Agammaglobulinemia 8b, autosomal recessive
Synonyms:
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT
Identifiers:
MONDO: MONDO:0859234; MedGen: C5676958; OMIM: 619824

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005088911Department of Human Genetics, Hannover Medical School
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 30, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Human Genetics, Hannover Medical School, SCV005088911.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024