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NM_000518.4(HBB):c.283G>T (p.Asp95Tyr) AND HEMOGLOBIN GELDROP ST. ANNA

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:
RCV000016887.2

Allele description

NM_000518.4(HBB):c.283G>T (p.Asp95Tyr)

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_000518.4(HBB):c.283G>T (p.Asp95Tyr)
Other names:
D94Y
HGVS:
  • NC_000011.10:g.5226609C>A
  • NG_000007.3:g.71007G>T
  • NG_042296.1:g.140C>A
  • NG_046672.1:g.4544C>A
  • NG_053049.1:g.2930C>A
  • NG_059281.1:g.5463G>T
  • NM_000518.5:c.283G>TMANE SELECT
  • NP_000509.1:p.Asp95Tyr
  • LRG_1232t1:c.283G>T
  • LRG_1232:g.5463G>T
  • LRG_1232p1:p.Asp95Tyr
  • NC_000011.9:g.5247839C>A
Protein change:
D95Y; ASP94TYR
Links:
HBVAR: 1225; OMIM: 141900.0535; dbSNP: rs33959340
NCBI 1000 Genomes Browser:
rs33959340
Molecular consequence:
  • NM_000518.5:c.283G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN GELDROP ST. ANNA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037157OMIM
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 't Lange Land [beta136(H14)Gly --> Arg]: a new hemoglobin variant described in a Dutch patient of Chinese origin.

Harteveld C, Plug RJ, Van Delft P, Van Helden WC, Giordano PC.

Hemoglobin. 2001 Aug;25(3):331-6. No abstract available.

PubMed [citation]
PMID:
11570727

Details of each submission

From OMIM, SCV000037157.4

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

Description

Harteveld et al. (2005) observed an abnormal hemoglobin fraction during an HPLC assay for Hb A(1c) control for diabetes mellitus in a 56-year-old northern European woman. This same abnormal fraction was found in 3 of her 5 sibs and in her son. There was no history of anemia, hemolytic, or circulatory episodes. Direct sequencing of the HBB gene revealed a GAC-to-TAC transversion in heterozygous form at codon 94. They concluded that the variant is a stable hemoglobin associated with a slightly elevated oxygen affinity. Harteveld et al. (2005) noted that this was the fourth mutation known to involve the asp94 residue of the HBB gene; see 141900.0016, 141900.0035, and 141900.0045. A frameshift mutation has also been reported at this position (141900.0338).

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

Last Updated: Mar 7, 2021