NM_000518.4(HBB):c.203T>G (p.Val68Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 2, 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:: RCV002466407.1

Allele description [Variation Report for NM_000518.4(HBB):c.203T>G (p.Val68Gly)]

NM_000518.4(HBB):c.203T>G (p.Val68Gly)

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.203T>G (p.Val68Gly)

Other names:

V67G

HGVS:

NC_000011.10:g.5226689A>C
NG_000007.3:g.70927T>G
NG_042296.1:g.220A>C
NG_046672.1:g.4624A>C
NG_053049.1:g.3010A>C
NG_059281.1:g.5383T>G
NM_000518.5:c.203T>GMANE SELECT
NP_000509.1:p.Val68Gly
LRG_1232t1:c.203T>G
LRG_1232:g.5383T>G
LRG_1232p1:p.Val68Gly
NC_000011.9:g.5247919A>C
NM_000518.4:c.203T>G
P68871:p.Val68Gly

Protein change:

V68G; VAL67GLY

Links:

HBVAR: 372; UniProtKB: P68871#VAR_040060; OMIM: 141900.0438; dbSNP: rs33918343

NCBI 1000 Genomes Browser:

rs33918343

Molecular consequence:

NM_000518.5:c.203T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002762151	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 2, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002762151

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 2, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002762151.1

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

Description

Observed in heterozygous state in a small number of individuals with hemolytic anemia (Kumar et al., 2014; Fay et al., 1993); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 8280608, 24611675)

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

Last Updated: Feb 7, 2023

ClinVar

Relating variation to medicine