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NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) AND Hyper-IgM syndrome type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 6, 2023
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:
RCV003995848.1

Allele description [Variation Report for NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)]

NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)

Gene:
TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
HGVS:
  • NC_000017.11:g.16948979dup
  • NG_007281.1:g.28110dup
  • NM_012452.3:c.204dupMANE SELECT
  • NP_036584.1:p.Leu69fs
  • LRG_120:g.28110dup
  • NC_000017.10:g.16852292_16852293insT
  • NC_000017.10:g.16852293dup
  • NM_012452.2:c.204dupA
  • NM_012452.3:c.204dup
  • NM_012452.3:c.204dupAMANE SELECT
Protein change:
L69fs
Links:
OMIM: 604907.0004; dbSNP: rs72553875
NCBI 1000 Genomes Browser:
rs72553875
Molecular consequence:
  • NM_012452.3:c.204dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hyper-IgM syndrome type 2
Synonyms:
Immunodeficiency with hyper IgM type 2; Hyper-IgM Immunodeficiency Syndrome, Type 2
Identifiers:
MONDO: MONDO:0011528; MedGen: C1720956; OMIM: 605258

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004847103Genomic Medicine Lab, University of California San Francisco
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 6, 2023) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalnonot 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 Genomic Medicine Lab, University of California San Francisco, SCV004847103.1

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

Last Updated: Oct 20, 2024