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NM_000517.6(HBA2):c.414C>T (p.Thr138=) AND alpha Thalassemia

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Sep 16, 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:
RCV001078248.11

Allele description [Variation Report for NM_000517.6(HBA2):c.414C>T (p.Thr138=)]

NM_000517.6(HBA2):c.414C>T (p.Thr138=)

Genes:
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000517.6(HBA2):c.414C>T (p.Thr138=)
Other names:
CD 137 ACC>ACT
HGVS:
  • NC_000016.10:g.173585C>T
  • NG_000006.1:g.34448C>T
  • NG_046165.1:g.3324C>T
  • NG_059186.1:g.1935C>T
  • NG_059271.1:g.5739C>T
  • NM_000517.6:c.414C>TMANE SELECT
  • NP_000508.1:p.Thr138=
  • LRG_1240t1:c.414C>T
  • LRG_1225:g.1935C>T
  • LRG_1240:g.5739C>T
  • LRG_1240p1:p.Thr138=
  • NC_000016.9:g.223584C>T
  • NM_000517.4:c.414C>T
Links:
dbSNP: rs371394396
NCBI 1000 Genomes Browser:
rs371394396
Molecular consequence:
  • NM_000517.6:c.414C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
alpha Thalassemia
Synonyms:
A-Thalassemia; Alpha thalassemia spectrum
Identifiers:
MONDO: MONDO:0011399; MedGen: C0002312; Orphanet: 846; OMIM: 604131

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001244390The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
no assertion criteria provided
Benign
(Nov 25, 2019) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV001461041Natera, Inc.
no assertion criteria provided
Likely benign
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Citations

PubMed

Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA.

Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF.

Hum Mutat. 1996;7(2):114-22. Erratum in: Hum Mutat 1996;7(4):382.

PubMed [citation]
PMID:
8829628

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244390.1

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

From Natera, Inc., SCV001461041.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 29, 2024