NM_000518.5(HBB):c.61G>A (p.Val21Met) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 11, 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:: RCV002496379.8

Allele description [Variation Report for NM_000518.5(HBB):c.61G>A (p.Val21Met)]

NM_000518.5(HBB):c.61G>A (p.Val21Met)

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.61G>A (p.Val21Met)

Other names:

V20M

HGVS:

NC_000011.10:g.5226961C>T
NG_000007.3:g.70655G>A
NG_042296.1:g.492C>T
NG_046672.1:g.4896C>T
NG_059281.1:g.5111G>A
NM_000518.5:c.61G>AMANE SELECT
NP_000509.1:p.Val21Met
LRG_1232t1:c.61G>A
LRG_1232:g.5111G>A
LRG_1232p1:p.Val21Met
NC_000011.9:g.5248191C>T
NM_000518.4:c.61G>A
P68871:p.Val21Met

Protein change:

V21M; VAL20MET

Links:

UniProtKB: P68871#VAR_002889; OMIM: 141900.0210; dbSNP: rs35890959

NCBI 1000 Genomes Browser:

rs35890959

Molecular consequence:

NM_000518.5:c.61G>A - 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

Recent activity

Clear Turn Off Turn On

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Channelopathy-associated congenital insensitivity to pain, autosomal recessive

MedGen

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
SCV002808190	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 11, 2022)	unknown	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

SCV002808190

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 11, 2022)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV002808190.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine