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NM_000518.4(HBB):c.410G>A (p.Gly137Asp) AND Hb SS disease

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Oct 19, 2023
Review status:
no classifications from unflagged records
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:
RCV001004558.10

Allele description [Variation Report for NM_000518.4(HBB):c.410G>A (p.Gly137Asp)]

NM_000518.4(HBB):c.410G>A (p.Gly137Asp)

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_000518.4(HBB):c.410G>A (p.Gly137Asp)
Other names:
G136D; Hb Hope
HGVS:
  • NC_000011.10:g.5225632C>T
  • NG_000007.3:g.71984G>A
  • NG_046672.1:g.3567C>T
  • NG_053049.1:g.1953C>T
  • NG_059281.1:g.6440G>A
  • NM_000518.5:c.410G>AMANE SELECT
  • NP_000509.1:p.Gly137Asp
  • NP_000509.1:p.Gly137Asp
  • LRG_1232t1:c.410G>A
  • HBB:c.410G>A
  • LRG_1232:g.6440G>A
  • LRG_1232p1:p.Gly137Asp
  • NC_000011.9:g.5246862C>T
  • NM_000518.3:c.410G>A
  • NM_000518.4:c.410G>A
  • P68871:p.Gly137Asp
Protein change:
G137D; GLY136ASP
Links:
HBVAR: 548; UniProtKB: P68871#VAR_003075; OMIM: 141900.0112; dbSNP: rs33949486
NCBI 1000 Genomes Browser:
rs33949486
Molecular consequence:
  • NM_000518.5:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hb SS disease (SCD)
Synonyms:
Sickle cell anemia; HbS disease; Hemoglobin S Disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011382; MedGen: C0002895; Orphanet: 232; OMIM: 603903

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV001163640.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001163640Baylor Genetics
flagged submission
Reason: New submission from submitter that appears to have been intended to update this older submission
Notes: None

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Last Updated: Oct 26, 2024