NM_000518.5(HBB):c.246C>A (p.Leu82=) AND Fetal hemoglobin quantitative trait locus 1

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

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

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

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:
Genomic location:
Preferred name:
NM_000518.5(HBB):c.246C>A (p.Leu82=)
  • 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
dbSNP: rs145669504
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000518.5:c.246C>A - synonymous variant - [Sequence Ontology: SO:0001819]


Fetal hemoglobin quantitative trait locus 1 (HBFQTL1)
MedGen: C1841621; Orphanet: 251380; OMIM: 141749

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001264146Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001264146.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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