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NM_000518.5(HBB):c.50G>A (p.Gly17Asp) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:
Nov 27, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000755547.25

Allele description [Variation Report for NM_000518.5(HBB):c.50G>A (p.Gly17Asp)]

NM_000518.5(HBB):c.50G>A (p.Gly17Asp)

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.50G>A (p.Gly17Asp)
Other names:
G16D; Hb J-Baltimore; Hb J-Georgia; Hb J-Ireland; Hb J-Trinidad; Hb N-New Haven
HGVS:
  • NC_000011.10:g.5226972C>T
  • NG_000007.3:g.70644G>A
  • NG_042296.1:g.503C>T
  • NG_046672.1:g.4907C>T
  • NG_059281.1:g.5100G>A
  • NM_000518.5:c.50G>AMANE SELECT
  • NP_000509.1:p.Gly17Asp
  • LRG_1232t1:c.50G>A
  • LRG_1232:g.5100G>A
  • LRG_1232p1:p.Gly17Asp
  • NC_000011.9:g.5248202C>T
  • NM_000518.4:c.50G>A
  • P68871:p.Gly17Asp
Protein change:
G17D; GLY16ASP
Links:
HBVAR: 247; UniProtKB: P68871#VAR_002880; OMIM: 141900.0123; dbSNP: rs33962676
NCBI 1000 Genomes Browser:
rs33962676
Molecular consequence:
  • NM_000518.5:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000603935ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Benign
(Nov 27, 2023)
germlineclinical testing

Citation Link,

SCV000889373Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Uncertain significance
(Jul 7, 2023)
unknownclinical testing

PubMed (12)
[See all records that cite these PMIDs]

SCV002552711GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jan 21, 2022)
germlineclinical testing

Citation Link,

SCV004235260Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jul 17, 2023)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Hb J-Baltimore [beta 16(A13)Gly-->Asp] associated with beta(+)-thalassemia in a Spanish family.

Arribalzaga K, Ricard MP, CarreƱo DL, Sanchez J, Gonzalez A, Ropero P, Villegas A.

Hemoglobin. 1996 Feb;20(1):79-84. No abstract available.

PubMed [citation]
PMID:
8745435

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R, Veldthuis M, Delzenne B, Berghuis J, Groen J, Ait Ichou F, Clifford E, Harteveld CL, Stroobants AK.

Hemoglobin. 2014;38(1):1-7. doi: 10.3109/03630269.2013.849608. Epub 2013 Nov 7.

PubMed [citation]
PMID:
24200101
See all PubMed Citations (13)

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603935.8

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889373.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

The HBB c.50G>A (p.Gly17Asp, also known as Hb J-Baltimore) variant is described in heterozygous individuals as having a normal clinical presentation. In the published literature, individuals heterozygous for Hb J-Baltimore and Hb S or Hb C have been described as having clinical and hematological findings similar to carriers of Hb S and Hb C alone (PMID: 14117783 (1963)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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

From GeneDx, SCV002552711.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in combination with either hemoblobin S, hemoglobin C, or beta thalassemia trait, but limited clinical information is provided on these individuals (Baglioni and Weatherall, 1963; Huisman et al., 1978; Musumeci et al., 1979; Arribalzaga et al., 1996); Observed in the heterozygous state in a mother and daughter with abnormally low HbA1c levels (Gargallo et al., 2010); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also described as Gly16Asp or Hb J-Baltimore using alternate nomenclature (Baglioni and Weatherall, 1963; Gargallo et al., 2010; Riou et al., 2015); This variant is associated with the following publications: (PMID: 27535164, 3808941, 14117783, 8226093, 5125343, 19429541, 31553106, 14092068, 511585, 24200101, 8745435, 19750260, 20206586, 25130136, 700140)

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

From Revvity Omics, Revvity, SCV004235260.1

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

Last Updated: Jul 15, 2024