NM_000558.5(HBA1):c.62_63insT (p.Ala22fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 15, 2022
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:: RCV003120151.3

Allele description [Variation Report for NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)]

NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)

HGVS:

NC_000016.10:g.176778_176779insT
NG_000006.1:g.37641_37642insT
NG_046166.1:g.2261_2262insT
NG_059186.1:g.5128_5129insT
NM_000558.5:c.62_63insTMANE SELECT
NP_000549.1:p.Ala22fs
LRG_1225t1:c.62_63insT
LRG_1225:g.5128_5129insT
LRG_1225p1:p.Ala22fs
NC_000016.9:g.226777_226778insT

Protein change:

A22fs

Molecular consequence:

NM_000558.5:c.62_63insT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV003799797	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Likely pathogenic (Nov 15, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003799797

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Likely pathogenic
(Nov 15, 2022)

germline

clinical testing

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003799797.2

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

Description

The HBA1 c.62_63insT; p.Ala22ArgfsTer36 variant (also known as p.Ala21ArgfsTer36 when numbered from the mature protein and codon20(+T), rs281864571, HbVar ID: 2800), is reported in HbVar in an individual with dyserythropiesis. This variant is only observed on two alleles in the Genome Aggregation Database. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html

#	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: Mar 4, 2023

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