NM_000518.5(HBB):c.246C>A (p.Leu82=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Nov 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000759796.5

Allele description [Variation Report for NM_000518.5(HBB):c.246C>A (p.Leu82=)]

NM_000518.5(HBB):c.246C>A (p.Leu82=)

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.246C>A (p.Leu82=)
HGVS:
  • NC_000011.10:g.5226646G>T
  • NG_000007.3:g.70970C>A
  • NG_042296.1:g.177G>T
  • NG_046672.1:g.4581G>T
  • NG_053049.1:g.2967G>T
  • NG_059281.1:g.5426C>A
  • NM_000518.5:c.246C>AMANE SELECT
  • NP_000509.1:p.Leu82=
  • LRG_1232t1:c.246C>A
  • LRG_1232:g.5426C>A
  • LRG_1232p1:p.Leu82=
  • NC_000011.9:g.5247876G>T
  • NM_000518.4:c.246C>A
  • p.Leu82Leu
Links:
dbSNP: rs145669504
NCBI 1000 Genomes Browser:
rs145669504
Molecular consequence:
  • NM_000518.5:c.246C>A - 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
SCV000889368Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Feb 8, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001019605Invitaecriteria provided, single submitter
Benign
(Nov 21, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.

Chan OT, Westover KD, Dietz L, Zehnder JL, Schrijver I.

Am J Clin Pathol. 2010 May;133(5):700-7. doi: 10.1309/AJCP7HQ2KWGHECIO.

PubMed [citation]
PMID:
20395516

Investigation of mutations in the HBB gene using the 1,000 genomes database.

Carlice-Dos-Reis T, Viana J, Moreira FC, Cardoso GL, Guerreiro J, Santos S, Ribeiro-Dos-Santos Â.

PLoS One. 2017;12(4):e0174637. doi: 10.1371/journal.pone.0174637.

PubMed [citation]
PMID:
28379995
PMCID:
PMC5381778
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889368.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001019605.3

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

Last Updated: Nov 27, 2021

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