NM_000518.5(HBB):c.316C>T (p.Leu106Phe) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000506082.1

Allele description [Variation Report for NM_000518.5(HBB):c.316C>T (p.Leu106Phe)]

NM_000518.5(HBB):c.316C>T (p.Leu106Phe)

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:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.316C>T (p.Leu106Phe)
Other names:
L105F
HGVS:
  • NC_000011.10:g.5225726G>A
  • NG_000007.3:g.71890C>T
  • NG_046672.1:g.3661G>A
  • NG_053049.1:g.2047G>A
  • NG_059281.1:g.6346C>T
  • NM_000518.5:c.316C>TMANE SELECT
  • NP_000509.1:p.Leu106Phe
  • LRG_1232t1:c.316C>T
  • LRG_1232:g.6346C>T
  • LRG_1232p1:p.Leu106Phe
  • NC_000011.9:g.5246956G>A
  • NM_000518.4:c.316C>T
Protein change:
L106F; LEU105PHE
Links:
OMIM: 141900.0391; dbSNP: rs34022507
NCBI 1000 Genomes Browser:
rs34022507
Molecular consequence:
  • NM_000518.5:c.316C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000601286Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Feb 15, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Hb south Milwaukee [beta 105 (G7) Leu----Phe]: a newly-identified hemoglobin variant with high oxygen affinity.

Honig GR, Vida LN, Latorraca R, Divgi AB.

Am J Hematol. 1990 Jul;34(3):199-203.

PubMed [citation]
PMID:
2363414

Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis.

George Priya Doss C, Rao S.

N Biotechnol. 2009 Apr;25(4):214-9. doi: 10.1016/j.nbt.2009.01.004. Epub 2009 Jan 21.

PubMed [citation]
PMID:
19429541
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601286.1

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

Last Updated: Sep 29, 2021

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