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NM_000518.5(HBB):c.1A>G (p.Met1Val) AND beta Thalassemia

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 25, 2019
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:
RCV001078261.11

Allele description [Variation Report for NM_000518.5(HBB):c.1A>G (p.Met1Val)]

NM_000518.5(HBB):c.1A>G (p.Met1Val)

Genes:
LOC106099062:HBB recombination 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.1A>G (p.Met1Val)
Other names:
Init CD ATG>GTG
HGVS:
  • NC_000011.10:g.5227021T>C
  • NG_000007.3:g.70595A>G
  • NG_042296.1:g.552T>C
  • NG_046672.1:g.4956T>C
  • NG_059281.1:g.5051A>G
  • NM_000518.5:c.1A>GMANE SELECT
  • NP_000509.1:p.Met1Val
  • LRG_1232t1:c.1A>G
  • LRG_1232:g.5051A>G
  • LRG_1232p1:p.Met1Val
  • NC_000011.9:g.5248251T>C
  • NM_000518.4:c.1A>G
  • p.?
Protein change:
M1V
Links:
dbSNP: rs34563000
NCBI 1000 Genomes Browser:
rs34563000
Molecular consequence:
  • NM_000518.5:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000518.5:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001244404The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
no assertion criteria provided
Pathogenic
(Nov 25, 2019) 		germlinecuration

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

Citation Link,

SCV002091624Natera, Inc.
no assertion criteria provided
Pathogenic
(Mar 17, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Citations

PubMed

A new beta-thalassemia mutation (initiation codon ATG----GTG) found in the Japanese population.

Hattori Y, Yamashiro Y, Ohba Y, Miyaji T, Morishita M, Yamamoto K, Yamamoto K, Narai S, Kimura A.

Hemoglobin. 1991;15(4):317-25. No abstract available.

PubMed [citation]
PMID:
1686262

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244404.2

#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., SCV002091624.2

#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: Oct 26, 2024