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NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 9, 2019
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:
RCV001283987.1

Allele description [Variation Report for NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs)]

NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs)

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
Insertion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs)
HGVS:
  • NC_000011.10:g.5226668_5226669insTGGAC
  • NG_000007.3:g.70948_70949insTCCAG
  • NG_042296.1:g.199_200insTGGAC
  • NG_046672.1:g.4603_4604insTGGAC
  • NG_053049.1:g.2989_2990insTGGAC
  • NG_059281.1:g.5404_5405insTCCAG
  • NM_000518.5:c.224_225insTCCAGMANE SELECT
  • NP_000509.1:p.Leu76fs
  • LRG_1232t1:c.224_225insTCCAG
  • LRG_1232:g.5404_5405insTCCAG
  • LRG_1232p1:p.Leu76fs
  • NC_000011.9:g.5247898_5247899insTGGAC
  • NM_000518.4:c.224_225insTCCAG
Protein change:
L76fs
Links:
dbSNP: rs1847556466
NCBI 1000 Genomes Browser:
rs1847556466
Molecular consequence:
  • NM_000518.5:c.224_225insTCCAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001469520Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely pathogenic
(Dec 9, 2019) 		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, SCV001469520.1

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

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.

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

Last Updated: Apr 23, 2022