NM_000518.5(HBB):c.389C>T (p.Ala130Val) AND Hb SS disease

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001004559.9

Allele description [Variation Report for NM_000518.5(HBB):c.389C>T (p.Ala130Val)]

NM_000518.5(HBB):c.389C>T (p.Ala130Val)

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.389C>T (p.Ala130Val)

Other names:

A129V

HGVS:

NC_000011.10:g.5225653G>A
NG_000007.3:g.71963C>T
NG_046672.1:g.3588G>A
NG_053049.1:g.1974G>A
NG_059281.1:g.6419C>T
NM_000518.5:c.389C>TMANE SELECT
NP_000509.1:p.Ala130Val
LRG_1232t1:c.389C>T
LRG_1232:g.6419C>T
LRG_1232p1:p.Ala130Val
NC_000011.9:g.5246883G>A
NM_000518.4:c.389C>T
P68871:p.Ala130Val

Protein change:

A130V; ALA129VAL

Links:

UniProtKB: P68871#VAR_003062; OMIM: 141900.0154; dbSNP: rs111645889

NCBI 1000 Genomes Browser:

rs111645889

Molecular consequence:

NM_000518.5:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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
SCV001163641	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	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

SCV001163641

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

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

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 Baylor Genetics, SCV001163641.1

#	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: Oct 26, 2024

ClinVar

Relating variation to medicine