NM_000518.5(HBB):c.328G>A (p.Val110Met) AND beta Thalassemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 17, 2015
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:: RCV000169614.2

Allele description [Variation Report for NM_000518.5(HBB):c.328G>A (p.Val110Met)]

NM_000518.5(HBB):c.328G>A (p.Val110Met)

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.328G>A (p.Val110Met)

Other names:

V109M

HGVS:

NC_000011.10:g.5225714C>T
NG_000007.3:g.71902G>A
NG_046672.1:g.3649C>T
NG_053049.1:g.2035C>T
NG_059281.1:g.6358G>A
NM_000518.5:c.328G>AMANE SELECT
NP_000509.1:p.Val110Met
LRG_1232t1:c.328G>A
LRG_1232:g.6358G>A
LRG_1232p1:p.Val110Met
NC_000011.9:g.5246944C>T
NM_000518.4:c.328G>A
P68871:p.Val110Met

Protein change:

V110M; VAL109MET

Links:

UniProtKB: P68871#VAR_003032; OMIM: 141900.0252; dbSNP: rs33969677

NCBI 1000 Genomes Browser:

rs33969677

Molecular consequence:

NM_000518.5:c.328G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: beta Thalassemia (BTHAL)
Synonyms:: Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
Identifiers:: MONDO: MONDO:0019402; MedGen: C0005283; Orphanet: 848

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000221140	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Feb 17, 2015)	unknown	literature only	PubMed (5) [See all records that cite these PMIDs] 4808644, 18818920, 7615400, 3957694, 23859443 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000221140

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Feb 17, 2015)

unknown

literature only

PubMed (5)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

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	literature only

Citations

PubMed

Hemoglobinopathic erythrocytosis due to a new electrophoretically silent variant, hemoglobin San Diego (beta109 (G11)val--met).

Nute PE, Stamatoyannopoulos G, Hermodson MA, Roth D.

J Clin Invest. 1974 Jan;53(1):320-8.

PubMed [citation]

PMID:: 4808644
PMCID:: PMC301467

Haemoglobinopathies with high oxygen affinity. Experience of Erythropathology Cooperative Spanish Group.

González Fernández FA, Villegas A, Ropero P, Carreño MD, Anguita E, Polo M, Pascual A, Henández A.

Ann Hematol. 2009 Mar;88(3):235-8. doi: 10.1007/s00277-008-0581-x. Epub 2008 Sep 26.

PubMed [citation]

PMID:: 18818920

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000221140.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (5)

#	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

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