NM_000518.5(HBB):c.328G>C (p.Val110Leu) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 4, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284154.1

Allele description [Variation Report for NM_000518.5(HBB):c.328G>C (p.Val110Leu)]

NM_000518.5(HBB):c.328G>C (p.Val110Leu)

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.328G>C (p.Val110Leu)
Other names:
V109L
HGVS:
  • NC_000011.10:g.5225714C>G
  • NG_000007.3:g.71902G>C
  • NG_046672.1:g.3649C>G
  • NG_053049.1:g.2035C>G
  • NG_059281.1:g.6358G>C
  • NM_000518.5:c.328G>CMANE SELECT
  • NP_000509.1:p.Val110Leu
  • LRG_1232t1:c.328G>C
  • LRG_1232:g.6358G>C
  • LRG_1232p1:p.Val110Leu
  • NC_000011.9:g.5246944C>G
  • NM_000518.4:c.328G>C
Protein change:
V110L; VAL109LEU
Links:
OMIM: 141900.0140; dbSNP: rs33969677
NCBI 1000 Genomes Browser:
rs33969677
Molecular consequence:
  • NM_000518.5:c.328G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001469780Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Sep 4, 2019)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Hb Johnstown [beta 109 (G11) Val----Leu]: a new electrophoretically silent variant that causes erythrocytosis.

Jones RT, Saiontz HI, Head C, Shih DT, Fairbanks VF.

Hemoglobin. 1990;14(2):147-56.

PubMed [citation]
PMID:
2272838

Hb Johnstown [beta 109 (G11) Val-->Leu]: second case described and associated for the first time with beta(0)-thalassemia in two Spanish families.

Ropero P, Villegas A, González AF, Anguita E, Sánchez J, Carreño DL, Arrizabalaga B, Atuxta L.

Am J Hematol. 2000 Dec;65(4):298-301.

PubMed [citation]
PMID:
11074558
See all PubMed Citations (6)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469780.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Found in at least one patient with expected phenotype for this gene. Predicted to have a tolerated effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function. Segregation with disease in affected and unaffected individuals from multiple families.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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