NM_000518.5(HBB):c.93-23T>C AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Dec 4, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000860961.4

Allele description [Variation Report for NM_000518.5(HBB):c.93-23T>C]

NM_000518.5(HBB):c.93-23T>C

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.93-23T>C
Other names:
IVS I-108 T>C
HGVS:
  • NC_000011.10:g.5226822A>G
  • NG_000007.3:g.70794T>C
  • NG_042296.1:g.353A>G
  • NG_046672.1:g.4757A>G
  • NG_059281.1:g.5250T>C
  • NM_000518.5:c.93-23T>CMANE SELECT
  • LRG_1232t1:c.93-23T>C
  • LRG_1232:g.5250T>C
  • NC_000011.9:g.5248052A>G
  • NM_000518.4:c.93-23T>C
Links:
dbSNP: rs111851677
NCBI 1000 Genomes Browser:
rs111851677
Molecular consequence:
  • NM_000518.5:c.93-23T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001001151Invitaecriteria provided, single submitter
Benign
(Dec 4, 2020)
germlineclinical testing

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

SCV001134241Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Nov 18, 2018)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean.

Muñiz A, Martinez G, Lavinha J, Pacheco P.

Am J Hematol. 2000 May;64(1):7-14.

PubMed [citation]
PMID:
10815781
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV001001151.3

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134241.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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