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NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 6, 2021
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:
RCV002482878.8

Allele description [Variation Report for NM_000518.5(HBB):c.205C>T (p.Leu69Phe)]

NM_000518.5(HBB):c.205C>T (p.Leu69Phe)

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.205C>T (p.Leu69Phe)
Other names:
L68F
HGVS:
  • NC_000011.10:g.5226687G>A
  • NG_000007.3:g.70929C>T
  • NG_042296.1:g.218G>A
  • NG_046672.1:g.4622G>A
  • NG_053049.1:g.3008G>A
  • NG_059281.1:g.5385C>T
  • NM_000518.5:c.205C>TMANE SELECT
  • NP_000509.1:p.Leu69Phe
  • NP_000509.1:p.Leu69Phe
  • LRG_1232t1:c.205C>T
  • LRG_1232:g.5385C>T
  • LRG_1232p1:p.Leu69Phe
  • NC_000011.9:g.5247917G>A
  • NM_000518.4:c.205C>T
Protein change:
L69F; LEU68PHE
Links:
OMIM: 141900.0523; OMIM: 141900.0524; dbSNP: rs33961459
NCBI 1000 Genomes Browser:
rs33961459
Molecular consequence:
  • NM_000518.5:c.205C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dominant beta-thalassemia
Synonyms:
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE; Beta-thalassemia, dominant inclusion body type
Identifiers:
MONDO: MONDO:0011381; MedGen: C1858990; Orphanet: 231226; Orphanet: 848; OMIM: 603902
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:
Hb SS disease (SCD)
Synonyms:
Sickle cell anemia; HbS disease; Hemoglobin S Disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011382; MedGen: C0002895; Orphanet: 232; OMIM: 603903
Name:
alpha Thalassemia
Synonyms:
A-Thalassemia; Alpha thalassemia spectrum
Identifiers:
MONDO: MONDO:0011399; MedGen: C0002312; Orphanet: 846; OMIM: 604131
Name:
Malaria, susceptibility to
Identifiers:
MONDO: MONDO:0021024; MedGen: C1970028; Orphanet: 673; OMIM: 611162
Name:
METHEMOGLOBINEMIA, BETA TYPE
Synonyms:
Methemoglobinemia, beta-globin type
Identifiers:
MedGen: C1840779; OMIM: 617971
Name:
Erythrocytosis, familial, 6
Synonyms:
ERYTHROCYTOSIS, BETA-GLOBIN TYPE; POLYCYTHEMIA, BETA-GLOBIN TYPE
Identifiers:
MONDO: MONDO:0054801; MedGen: C4693822; OMIM: 617980
Name:
Hereditary persistence of fetal hemoglobin
Identifiers:
MONDO: MONDO:0020989; MedGen: C0019025; OMIM: 141749
Name:
Beta-thalassemia HBB/LCRB
Identifiers:
MONDO: MONDO:0013517; MedGen: CN322236; OMIM: 613985

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002780935Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 6, 2021) 		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, SCV002780935.1

#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 10, 2024