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NM_000518.5(HBB):c.16C>T (p.Pro6Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 11, 2020)
Last evaluated:
Sep 6, 2019
Accession:
VCV000015540.4
Variation ID:
15540
Description:
single nucleotide variant
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NM_000518.5(HBB):c.16C>T (p.Pro6Ser)

Allele ID
30579
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5227006 (GRCh38) GRCh38 UCSC
11: 5248236 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.5227006G>A
NC_000011.9:g.5248236G>A
NG_000007.3:g.70610C>T
... more HGVS
Protein change
P6S
Other names
P5S
Hb Tyne
Canonical SPDI
NC_000011.10:5227005:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
1000 Genomes Project 0.00020
Links
HBVAR: 225
ClinGen: CA125420
OMIM: 141900.0451
dbSNP: rs33912272
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 2, 2018 RCV000756240.4
Uncertain significance 1 criteria provided, single submitter Sep 6, 2019 RCV001283417.2
HEMOGLOBIN TYNE
other 1 no assertion criteria provided Dec 12, 2017 RCV000016806.3
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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 1293
LOC106099062 - - - GRCh38 - 702
LOC107133510 - - - GRCh38 - 1226

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 02, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889363.1
Submitted: (Aug 31, 2018)
Evidence details
Uncertain significance
(Sep 06, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000883988.2
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The Hb Tyne variant (HBB: c.16C>T; p.Pro6Ser, also known as Pro5Ser when numbered from the mature protein; rs33912272) has been described in the heterozygous state … (more)
other
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN TYNE
Allele origin: germline
OMIM
Accession: SCV000037076.4
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
A new beta chain variant, Hb Tyne [beta 5(A2)Pro-->Ser]. Langdown JV Hemoglobin 1994 PMID: 7852088

Text-mined citations for rs33912272...

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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 Nov 27, 2021