U.S. flag

An official website of the United States government

NM_000518.5(HBB):c.316-219_316-218del AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 24, 2020
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:
RCV001400867.7

Allele description [Variation Report for NM_000518.5(HBB):c.316-219_316-218del]

NM_000518.5(HBB):c.316-219_316-218del

Genes:
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.316-219_316-218del
HGVS:
  • NC_000011.10:g.5225944_5225945del
  • NG_000007.3:g.71671_71672del
  • NG_046672.1:g.3879_3880del
  • NG_053049.1:g.2265_2266del
  • NG_059281.1:g.6127_6128del
  • NM_000518.5:c.316-219_316-218delMANE SELECT
  • LRG_1232t1:c.316-219_316-218del
  • LRG_1232:g.6127_6128del
  • NC_000011.9:g.5247174_5247175del
Links:
dbSNP: rs2133586757
NCBI 1000 Genomes Browser:
rs2133586757
Molecular consequence:
  • NM_000518.5:c.316-219_316-218del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On
  • Hs3st6 [Perognathus longimembris pacificus]
    Hs3st6 [Perognathus longimembris pacificus]
    Gene ID:125340689
    Gene
  • Thoracotomy
    Thoracotomy
    Surgical incision into the chest wall.<br/>Year introduced: 1988
    MeSH
  • Microtubule-Associated Proteins
    Microtubule-Associated Proteins
    High molecular weight proteins found in the MICROTUBULES of the cytoskeletal system. Under certain conditions they are required for TUBULIN assembly into the microtubules and ...<br/>Year introduced: 1985
    MeSH
  • Pleural Diseases
    Pleural Diseases
    Diseases involving the PLEURA.<br/>Year introduced: 1966
    MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001602678Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Feb 24, 2020) 		germlineclinical testing

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

Help

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001602678.5

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

Last Updated: Feb 20, 2024