NM_002137.4(HNRNPA2B1):c.809_811dup (p.Gly270_Tyr271insCys) AND Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 6, 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:: RCV002863705.2

Allele description [Variation Report for NM_002137.4(HNRNPA2B1):c.809_811dup (p.Gly270_Tyr271insCys)]

NM_002137.4(HNRNPA2B1):c.809_811dup (p.Gly270_Tyr271insCys)

Gene:

HNRNPA2B1:heterogeneous nuclear ribonucleoprotein A2/B1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7p15.2

Genomic location:

Preferred name:

NM_002137.4(HNRNPA2B1):c.809_811dup (p.Gly270_Tyr271insCys)

HGVS:

NC_000007.14:g.26193605_26193607dup
NG_029680.1:g.12187_12189dup
NM_002137.4:c.809_811dupMANE SELECT
NM_031243.3:c.845_847dup
NP_002128.1:p.Gly270_Tyr271insCys
NP_112533.1:p.Gly282_Tyr283insCys
NC_000007.13:g.26233224_26233225insAGC
NC_000007.13:g.26233225_26233227dup

Molecular consequence:

NM_002137.4:c.809_811dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_031243.3:c.845_847dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2)
Synonyms:: MULTISYSTEM PROTEINOPATHY 2
Identifiers:: MONDO: MONDO:0014178; MedGen: C3809468; OMIM: 615422

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003232614	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 6, 2022)	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

SCV003232614

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 6, 2022)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003232614.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with HNRNPA2B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.845_847dup, results in the insertion of 1 amino acid(s) of the HNRNPA2B1 protein (p.Gly282_Tyr283insCys), but otherwise preserves the integrity of the reading frame.

#	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: Feb 20, 2024

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