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NM_002137.4(HNRNPA2B1):c.1001del (p.Gly334fs) AND Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 2023
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:
RCV003142354.2

Allele description [Variation Report for NM_002137.4(HNRNPA2B1):c.1001del (p.Gly334fs)]

NM_002137.4(HNRNPA2B1):c.1001del (p.Gly334fs)

Gene:
HNRNPA2B1:heterogeneous nuclear ribonucleoprotein A2/B1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_002137.4(HNRNPA2B1):c.1001del (p.Gly334fs)
HGVS:
  • NC_000007.14:g.26192545del
  • NG_029680.1:g.13253del
  • NM_002137.4:c.1001delMANE SELECT
  • NM_031243.3:c.1037del
  • NP_002128.1:p.Gly334fs
  • NP_112533.1:p.Gly346fs
  • NC_000007.13:g.26232165del
Protein change:
G334fs
Molecular consequence:
  • NM_002137.4:c.1001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_031243.3:c.1037del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807910Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 4, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807910.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PS4 supporting, PM2 moderated

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 6, 2023