NM_000518.4(HBB):c.220G>A (p.Asp74Asn) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 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:: RCV000587238.23

Allele description [Variation Report for NM_000518.4(HBB):c.220G>A (p.Asp74Asn)]

NM_000518.4(HBB):c.220G>A (p.Asp74Asn)

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_000518.4(HBB):c.220G>A (p.Asp74Asn)

Other names:

D73N

HGVS:

NC_000011.10:g.5226672C>T
NG_000007.3:g.70944G>A
NG_042296.1:g.203C>T
NG_046672.1:g.4607C>T
NG_053049.1:g.2993C>T
NG_059281.1:g.5400G>A
NM_000518.5:c.220G>AMANE SELECT
NP_000509.1:p.Asp74Asn
LRG_1232t1:c.220G>A
LRG_1232:g.5400G>A
LRG_1232p1:p.Asp74Asn
NC_000011.9:g.5247902C>T
NM_000518.4:c.220G>A

Protein change:

D74N; ASP73ASN

Links:

HBVAR: 383; OMIM: 141900.0039; OMIM: 141900.0153; dbSNP: rs33945705

NCBI 1000 Genomes Browser:

rs33945705

Molecular consequence:

NM_000518.5:c.220G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000603915	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely benign (Nov 27, 2023)	germline	clinical testing	Citation Link,
SCV001134215	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Apr 13, 2023)	unknown	clinical testing	PubMed (14) [See all records that cite these PMIDs] 27521862, 30604644, 26544676, 26901597, 19758965, 31553106, 27521855, 7691242, 19429541, 5619995, 8494004, 14370233, 24957539, 26467025
SCV004235257	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 10, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000603915

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Likely benign
(Nov 27, 2023)

germline

clinical testing

Citation Link,

SCV001134215

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Apr 13, 2023)

unknown

clinical testing

PubMed (14)
[See all records that cite these PMIDs]

SCV004235257

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 10, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical, hematological and genetic data of a cohort of children with hemoglobin SD.

Rezende Pdo V, Costa Kda S, Domingues Junior JC, Silveira PB, Belisário AR, Silva CM, Viana MB.

Rev Bras Hematol Hemoter. 2016 Jul-Sep;38(3):240-6. doi: 10.1016/j.bjhh.2016.05.002. Epub 2016 May 21.

PubMed [citation]

PMID:: 27521862
PMCID:: PMC4997897

Compound Heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A).

Kundrapu S, Janaki N, Meyerson HJ.

Hemoglobin. 2018 Jul;42(4):269-271. doi: 10.1080/03630269.2018.1523799. Epub 2019 Jan 3.

PubMed [citation]

PMID:: 30604644

See all PubMed Citations (15)

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603915.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134215.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (14)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV004235257.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 7, 2024

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