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NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 9, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002476982.8

Allele description [Variation Report for NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)]

NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)

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.377T>C (p.Leu126Pro)
Other names:
L125P; Alpha2 Leu125Pro
HGVS:
  • NC_000016.10:g.173548T>C
  • NG_000006.1:g.34411T>C
  • NG_046165.1:g.3287T>C
  • NG_059186.1:g.1898T>C
  • NG_059271.1:g.5702T>C
  • NM_000517.6:c.377T>CMANE SELECT
  • NP_000508.1:p.Leu126Pro
  • NP_000508.1:p.Leu126Pro
  • LRG_1240t1:c.377T>C
  • LRG_1225:g.1898T>C
  • LRG_1240:g.5702T>C
  • LRG_1240p1:p.Leu126Pro
  • NC_000016.9:g.223547T>C
  • NM_000517.4:c.377T>C
  • P69905:p.Leu126Pro
Protein change:
L126P; LEU125PRO
Links:
UniProtKB: P69905#VAR_002836; OMIM: 141850.0005; dbSNP: rs41397847
NCBI 1000 Genomes Browser:
rs41397847
Molecular consequence:
  • NM_000517.6:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Heinz body anemia
Synonyms:
Heinz body anemias; Heinz body hemolytic anemia
Identifiers:
MONDO: MONDO:0007705; MedGen: C0700299; Orphanet: 178330; OMIM: 140700; Human Phenotype Ontology: HP:0005511
Name:
alpha Thalassemia
Synonyms:
A-Thalassemia; Alpha thalassemia spectrum
Identifiers:
MONDO: MONDO:0011399; MedGen: C0002312; Orphanet: 846; OMIM: 604131
Name:
Hemoglobin H disease (HBH)
Synonyms:
ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE; HEMOGLOBIN H DISEASE, DELETIONAL
Identifiers:
MONDO: MONDO:0013512; MedGen: C3161174; Orphanet: 93616; OMIM: 613978
Name:
Erythrocytosis, familial, 7
Synonyms:
ERYTHROCYTOSIS, ALPHA-GLOBIN TYPE; POLYCYTHEMIA, ALPHA-GLOBIN TYPE; ERYTHROCYTOSIS 7
Identifiers:
MONDO: MONDO:0054802; MedGen: C4693823; OMIM: 617981

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002780035Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 9, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002780035.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024