NM_000518.5(HBB):c.100G>A (p.Val34Met) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 27, 2017
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:: RCV000781454.1

Allele description [Variation Report for NM_000518.5(HBB):c.100G>A (p.Val34Met)]

NM_000518.5(HBB):c.100G>A (p.Val34Met)

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.100G>A (p.Val34Met)

HGVS:

NC_000011.10:g.5226792C>T
NG_000007.3:g.70824G>A
NG_042296.1:g.323C>T
NG_046672.1:g.4727C>T
NG_059281.1:g.5280G>A
NM_000518.5:c.100G>AMANE SELECT
NP_000509.1:p.Val34Met
LRG_1232t1:c.100G>A
LRG_1232:g.5280G>A
LRG_1232p1:p.Val34Met
NC_000011.9:g.5248022C>T
NM_000518.4:c.100G>A

Protein change:

V34M; VAL34MET

Links:

OMIM: 141900.0478; dbSNP: rs1141370

NCBI 1000 Genomes Browser:

rs1141370

Molecular consequence:

NM_000518.5:c.100G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000919490	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000919490

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 27, 2017)

germline

clinical testing

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

Citation Link

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

Hb Rio Claro [beta34(B16)Val-->Met]: a novel electrophoretically silent variant found in association with Hb Hasharon [alpha47(CE5)Asp-->His] and alpha-thalassemia-2(-alpha3.7).

Grignoli CR, Wenning MR, Sonati MF, Kimura EM, Arruda VR, Saad ST, Costa FF.

Hemoglobin. 1999 May;23(2):177-82. No abstract available.

PubMed [citation]

PMID:: 10335985

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919490.1

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

Description

Variant summary: The HBB c.100G>A (p.Val34Met) variant (also known as Hb Rio Claro) involves the alteration of a non-conserved nucleotide and is predicted to be damaging by 2/3 in silico tools (SNPsandGO and Mutation taster not captured due to low reliability index). This variant is absent in 246118 control chromosomes (gnomAD). This variant was detected in a 4-year-old Caucasian Brazilian boy of Italian descent with Hb Hasharon [alfa47(CE5)Asp>His] and HBA2 gene deletion (-alfa 3.7) and in his mother with the same genotype (Grignoli_1999). Hematologically, the child had no anemia and presented with only mild microcytosis and hypochromia, probably resulting from the presence of the alfa-thal. The mother had moderate microcytic and hypochromic anemia resulting from a concomitant iron deficiency. The authors assume that the complex association of this variant with Hb Hasharon and alfa-thal deletion might contribute to the anemia observed in the patient and his mother. Tests for Hb stability were performed by incubation at 50C and by the isopropanol test and this Hb variant was found to have normal stability. Because of limited information available, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

#	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: Apr 23, 2022

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