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NM_000518.5(HBB):c.373C>A (p.Pro125Thr) AND beta Thalassemia

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 1, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001289992.2

Allele description [Variation Report for NM_000518.5(HBB):c.373C>A (p.Pro125Thr)]

NM_000518.5(HBB):c.373C>A (p.Pro125Thr)

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.373C>A (p.Pro125Thr)
HGVS:
  • NC_000011.10:g.5225669G>T
  • NG_000007.3:g.71947C>A
  • NG_046672.1:g.3604G>T
  • NG_053049.1:g.1990G>T
  • NG_059281.1:g.6403C>A
  • NM_000518.5:c.373C>AMANE SELECT
  • NP_000509.1:p.Pro125Thr
  • LRG_1232t1:c.373C>A
  • LRG_1232:g.6403C>A
  • LRG_1232p1:p.Pro125Thr
  • NC_000011.9:g.5246899G>T
Protein change:
P125T
Links:
dbSNP: rs35461710
NCBI 1000 Genomes Browser:
rs35461710
Molecular consequence:
  • NM_000518.5:c.373C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
beta Thalassemia (BTHAL)
Synonyms:
Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
Identifiers:
MONDO: MONDO:0019402; MedGen: C0005283; Orphanet: 848

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001478025Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province
no assertion criteria provided
Benign
(Dec 1, 2020) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chineseinheritedyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, SCV001478025.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese2not providednot providedclinical testingnot provided

Description

The proband presented the HBB:c.373C>A mutation in a heterozygote state. The carrier had normal hematological parameters (Hb 162 g/L, MCV 91.4 fL, MCH 30.3 pg)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jun 23, 2024