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

Clinical significance:Likely benign (Last evaluated: Dec 12, 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:
RCV000505921.6

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000603927ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Jun 14, 2019)
germlineclinical testing

Citation Link,

SCV000919463Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Dec 12, 2020)
germlineclinical testing

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

Citation Link

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603927.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919463.3

#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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