NM_000518.4(HBB):c.410G>A (p.Gly137Asp) AND Inborn genetic diseases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 8, 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:: RCV002321485.9

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:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002628022	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Aug 8, 2017)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 12144064, 15658184, 17655700, 19429541, 2232267, 23297836 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002628022

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Aug 8, 2017)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia.

Sawangareetrakul P, Svasti S, Yodsowon B, Winichagoon P, Srisomsap C, Svasti J, Fucharoen S.

Hemoglobin. 2002 May;26(2):191-6. No abstract available.

PubMed [citation]

PMID:: 12144064

Hb Hope [beta136(H14)Gly-->Asp (GGT-->GAT)]: interactions with Hb S [beta6(A3)Glu-->Val (GAG-->GTG)], other variant hemoglobins and thalassemia.

Ingle J, Adewoye A, Dewan R, Okoli M, Rollins L, Eung SH, Luo HY, Chui DH, Steinberg MH.

Hemoglobin. 2004;28(4):277-85. Review.

PubMed [citation]

PMID:: 15658184

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV002628022.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Oct 26, 2024

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