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NM_000518.5(HBB):c.92+6T>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 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:
RCV003478077.1

Allele description [Variation Report for NM_000518.5(HBB):c.92+6T>A]

NM_000518.5(HBB):c.92+6T>A

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.92+6T>A
HGVS:
  • NC_000011.10:g.5226924A>T
  • NG_000007.3:g.70692T>A
  • NG_042296.1:g.455A>T
  • NG_046672.1:g.4859A>T
  • NG_059281.1:g.5148T>A
  • NM_000518.5:c.92+6T>AMANE SELECT
  • LRG_1232t1:c.92+6T>A
  • LRG_1232:g.5148T>A
  • NC_000011.9:g.5248154A>T
  • NM_000518.4:c.92+6T>A
Links:
dbSNP: rs35724775
NCBI 1000 Genomes Browser:
rs35724775
Molecular consequence:
  • NM_000518.5:c.92+6T>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000601330Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jun 13, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601330.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The HBB c.92+6T>A variant, to the best of our knowledge, has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). A different variant at the same position, c.92+6T>C, interferes with beta-globin mRNA splicing and is associated with beta(+)-thalassemia. Based on the available information, we are unable to determine the clinical significance of the c.92+6T>A variant. Clinical correlation and genetic counseling are recommended.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024