NM_000518.5(HBB):c.257T>C (p.Phe86Ser) AND Hemoglobinopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 29, 1967
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:: RCV000016279.6

Allele description [Variation Report for NM_000518.5(HBB):c.257T>C (p.Phe86Ser)]

NM_000518.5(HBB):c.257T>C (p.Phe86Ser)

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.257T>C (p.Phe86Ser)

Other names:

F85S; Hb Bryn Mawr; Hb Buenos Aires

HGVS:

NC_000011.10:g.5226635A>G
NG_000007.3:g.70981T>C
NG_042296.1:g.166A>G
NG_046672.1:g.4570A>G
NG_053049.1:g.2956A>G
NG_059281.1:g.5437T>C
NM_000518.5:c.257T>CMANE SELECT
NP_000509.1:p.Phe86Ser
LRG_1232t1:c.257T>C
LRG_1232:g.5437T>C
LRG_1232p1:p.Phe86Ser
NC_000011.9:g.5247865A>G
NM_000518.4:c.257T>C

Protein change:

F86S; PHE85SER

Links:

HBVAR: 414; OMIM: 141900.0034; dbSNP: rs35693898

NCBI 1000 Genomes Browser:

rs35693898

Molecular consequence:

NM_000518.5:c.257T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hemoglobinopathy
Synonyms:: Hemoglobin disorder; Haemoglobinopathies
Identifiers:: MONDO: MONDO:0044348; MedGen: C0019045

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036547	OMIM	no assertion criteria provided	Pathogenic (Sep 29, 1967)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 6038175, 14197371 Weinstein, B. I., White, J. M., Wiltshire, A., Lehmann, H. Hemoglobina Buenos Aires: una nueva hemoglobina inestable. (Abstract) Medicina 32: 749, 1973.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036547

OMIM

no assertion criteria provided

Pathogenic
(Sep 29, 1967)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Weinstein, B. I., White, J. M., Wiltshire, A., Lehmann, H. Hemoglobina Buenos Aires: una nueva hemoglobina inestable. (Abstract) Medicina 32: 749, 1973.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hemoglobin Gun Hill: deletion of five amino acid residues and impaired heme-globin binding.

Bradley TB Jr, Wohl RC, Rieder RF.

Science. 1967 Sep 29;157(3796):1581-3.

PubMed [citation]

PMID:: 6038175

HAEMOGLOBIN GACCA.

BOI-DOKU FS, LEHMANN H, BEALE D.

Nature. 1964 Jul 25;203:363-5. No abstract available.

PubMed [citation]

PMID:: 14197371

Details of each submission

From OMIM, SCV000036547.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

See Bradley et al. (1972), Lehmann (1973), and Weinstein et al. (1973).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 4, 2023

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