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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 1, 2017)
Last evaluated:
Feb 15, 2017
Accession:
VCV000015480.2
Variation ID:
15480
Description:
single nucleotide variant
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NM_000518.5(HBB):c.316C>T (p.Leu106Phe)

Allele ID
30519
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5225726 (GRCh38) GRCh38 UCSC
11: 5246956 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1232:g.6346C>T
LRG_1232t1:c.316C>T LRG_1232p1:p.Leu106Phe
NC_000011.10:g.5225726G>A
... more HGVS
Protein change
L106F
Other names
L105F
Canonical SPDI
NC_000011.10:5225725:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA125336
OMIM: 141900.0391
dbSNP: rs34022507
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 15, 2017 RCV000506082.1
HEMOGLOBIN SOUTH MILWAUKEE
other 1 no assertion criteria provided Dec 12, 2017 RCV000016738.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HBB - - GRCh38
GRCh37
45 1290
LOC107133510 - - - GRCh38 - 1223
LOC110006319 - - - GRCh38 - 573

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 15, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601286.1
Submitted: (Aug 01, 2017)
Evidence details
Publications
PubMed (2)
other
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN SOUTH MILWAUKEE
Allele origin: germline
OMIM
Accession: SCV000037008.4
Submitted: (Jul 20, 2016)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. George Priya Doss C New biotechnology 2009 PMID: 19429541
Hb south Milwaukee [beta 105 (G7) Leu----Phe]: a newly-identified hemoglobin variant with high oxygen affinity. Honig GR American journal of hematology 1990 PMID: 2363414

Text-mined citations for rs34022507...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021