NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=) AND not provided

Clinical significance:Likely benign (Last evaluated: Dec 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001705574.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)]

NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)

Gene:
IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)
HGVS:
  • NC_000011.10:g.68908164C>T
  • NG_007976.1:g.9314C>T
  • NM_002180.2:c.276C>T
  • NM_002180.3:c.276C>TMANE SELECT
  • NP_002171.2:p.Tyr92=
  • NP_002171.2:p.Tyr92=
  • LRG_250t1:c.276C>T
  • LRG_250:g.9314C>T
  • LRG_250p1:p.Tyr92=
  • NC_000011.9:g.68675632C>T
Links:
dbSNP: rs146217031
NCBI 1000 Genomes Browser:
rs146217031
Molecular consequence:
  • NM_002180.2:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002180.3:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000513266GeneDxcriteria provided, single submitter
Likely benign
(Dec 16, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000513266.4

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

Last Updated: Nov 27, 2021

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