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NM_000518.5(HBB):c.104T>A (p.Val35Asp) AND HEMOGLOBIN SANTANDER

Germline classification:
other (1 submission)
Last evaluated:
Dec 12, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000016872.3

Allele description [Variation Report for NM_000518.5(HBB):c.104T>A (p.Val35Asp)]

NM_000518.5(HBB):c.104T>A (p.Val35Asp)

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.104T>A (p.Val35Asp)
Other names:
V34D; Hb Santander
HGVS:
  • NC_000011.10:g.5226788A>T
  • NG_000007.3:g.70828T>A
  • NG_042296.1:g.319A>T
  • NG_046672.1:g.4723A>T
  • NG_059281.1:g.5284T>A
  • NM_000518.5:c.104T>AMANE SELECT
  • NP_000509.1:p.Val35Asp
  • LRG_1232t1:c.104T>A
  • LRG_1232:g.5284T>A
  • LRG_1232p1:p.Val35Asp
  • NC_000011.9:g.5248018A>T
  • NM_000518.4:c.104T>A
  • P68871:p.Val35Asp
Protein change:
V35D; VAL34ASP
Links:
HBVAR: 1160; UniProtKB: P68871#VAR_025394; OMIM: 141900.0516; dbSNP: rs1135101
NCBI 1000 Genomes Browser:
rs1135101
Molecular consequence:
  • NM_000518.5:c.104T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN SANTANDER
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037142OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hb Santander [beta34(B16)Val --> Asp (GTC --> GAC)]: a new unstable variant found as a de novo mutation in a Spanish patient.

Villegas A, Ropero P, Nogales A, González FA, Mateo M, Mazo E, Rodrigo E, Arias M.

Hemoglobin. 2003 Feb;27(1):31-5. No abstract available.

PubMed [citation]
PMID:
12603091

Details of each submission

From OMIM, SCV000037142.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 22-year-old Spanish male presenting with jaundice and suffering from hemolytic crises during infections, Villegas et al. (2003) identified an unstable Hb variant in which the valine residue at position 34 of the beta-globin chain was replaced by aspartic acid (val34 to asp; V34D).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022