NM_000517.6(HBA2):c.114_115insGAA (p.Pro38_Thr39insGlu) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 30, 2018
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:: RCV000759781.3

Allele description [Variation Report for NM_000517.6(HBA2):c.114_115insGAA (p.Pro38_Thr39insGlu)]

NM_000517.6(HBA2):c.114_115insGAA (p.Pro38_Thr39insGlu)

Genes:

LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000517.6(HBA2):c.114_115insGAA (p.Pro38_Thr39insGlu)

HGVS:

NC_000016.10:g.173143_173144insGAA
NG_000006.1:g.34006_34007insGAA
NG_046165.1:g.2882_2883insGAA
NG_059186.1:g.1493_1494insGAA
NG_059271.1:g.5297_5298insGAA
NM_000517.6:c.114_115insGAAMANE SELECT
NP_000508.1:p.Pro38_Thr39insGlu
LRG_1240t1:c.114_115insGAA
LRG_1225:g.1493_1494insGAA
LRG_1240:g.5297_5298insGAA
LRG_1240p1:p.Pro38_Thr39insGlu
NC_000016.9:g.223142_223143insGAA
NM_000517.4:c.114_115insGAA

Links:

dbSNP: rs281860626

NCBI 1000 Genomes Browser:

rs281860626

Molecular consequence:

NM_000517.6:c.114_115insGAA - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000889347	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely pathogenic (Jan 30, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000889347

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely pathogenic
(Jan 30, 2018)

germline

clinical testing

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

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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889347.2

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

#	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: Jun 30, 2022

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