NM_004448.4(ERBB2):c.3694dup (p.Ala1232fs) AND Neuroepithelial tumor, PATZ1 fusion-positive

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 2020
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:: RCV003315274.2

Allele description [Variation Report for NM_004448.4(ERBB2):c.3694dup (p.Ala1232fs)]

NM_004448.4(ERBB2):c.3694dup (p.Ala1232fs)

Gene:

ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_004448.4(ERBB2):c.3694dup (p.Ala1232fs)

HGVS:

NC_000017.11:g.39727970dup
NG_007503.1:g.44831dup
NM_001005862.3:c.3604dup
NM_001289936.2:c.3649dup
NM_001289937.2:c.*273dup
NM_001382782.1:c.3604dup
NM_001382783.1:c.3604dup
NM_001382784.1:c.3811dup
NM_001382785.1:c.3796dup
NM_001382786.1:c.3775dup
NM_001382787.1:c.3769dup
NM_001382788.1:c.3724dup
NM_001382789.1:c.3715dup
NM_001382790.1:c.3691dup
NM_001382791.1:c.3685dup
NM_001382792.1:c.3658dup
NM_001382793.1:c.3652dup
NM_001382794.1:c.3652dup
NM_001382795.1:c.3646dup
NM_001382796.1:c.3607dup
NM_001382797.1:c.3595dup
NM_001382798.1:c.3538dup
NM_001382799.1:c.3514dup
NM_001382800.1:c.3508dup
NM_001382801.1:c.3490dup
NM_001382802.1:c.3436dup
NM_001382803.1:c.*273dup
NM_001382804.1:c.2866dup
NM_001382805.1:c.2743dup
NM_001382806.1:c.2656dup
NM_004448.4:c.3694dupMANE SELECT
NP_001005862.1:p.Ala1202Glyfs
NP_001005862.1:p.Ala1202fs
NP_001276865.1:p.Ala1217Glyfs
NP_001276865.1:p.Ala1217fs
NP_001369711.1:p.Ala1202fs
NP_001369712.1:p.Ala1202fs
NP_001369713.1:p.Ala1271fs
NP_001369714.1:p.Ala1266fs
NP_001369715.1:p.Ala1259fs
NP_001369716.1:p.Ala1257fs
NP_001369717.1:p.Ala1242fs
NP_001369718.1:p.Ala1239fs
NP_001369719.1:p.Ala1231fs
NP_001369720.1:p.Ala1229fs
NP_001369721.1:p.Ala1220fs
NP_001369722.1:p.Ala1218fs
NP_001369723.1:p.Ala1218fs
NP_001369724.1:p.Ala1216fs
NP_001369725.1:p.Ala1203fs
NP_001369726.1:p.Ala1199fs
NP_001369727.1:p.Ala1180fs
NP_001369728.1:p.Ala1172fs
NP_001369729.1:p.Ala1170fs
NP_001369730.1:p.Ala1164fs
NP_001369731.1:p.Ala1146fs
NP_001369733.1:p.Ala956fs
NP_001369734.1:p.Ala915fs
NP_001369735.1:p.Ala886fs
NP_004439.2:p.Ala1232Glyfs
NP_004439.2:p.Ala1232fs
LRG_724t1:c.3604dup
LRG_724t2:c.3694dup
LRG_724t4:c.3649dup
LRG_724:g.44831dup
LRG_724p1:p.Ala1202Glyfs
LRG_724p2:p.Ala1232Glyfs
LRG_724p4:p.Ala1217Glyfs
NC_000017.10:g.37884223dup
NM_001005862.2:c.3604dup
NM_001289936.1:c.3649dup
NM_004448.3:c.3688_3689insG
NM_004448.3:c.3694dup
NR_110535.2:n.3932dup

Protein change:

A1146fs

Links:

dbSNP: rs768092215

NCBI 1000 Genomes Browser:

rs768092215

Molecular consequence:

NM_001289937.2:c.*273dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001382803.1:c.*273dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001005862.3:c.3604dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001289936.2:c.3649dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382782.1:c.3604dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382783.1:c.3604dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382784.1:c.3811dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382785.1:c.3796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382786.1:c.3775dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382787.1:c.3769dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382788.1:c.3724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382789.1:c.3715dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382790.1:c.3691dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382791.1:c.3685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382792.1:c.3658dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382793.1:c.3652dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382794.1:c.3652dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382795.1:c.3646dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382796.1:c.3607dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382797.1:c.3595dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382798.1:c.3538dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382799.1:c.3514dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382800.1:c.3508dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382801.1:c.3490dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382802.1:c.3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382804.1:c.2866dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382805.1:c.2743dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382806.1:c.2656dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004448.4:c.3694dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_110535.2:n.3932dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Neuroepithelial tumor, PATZ1 fusion-positive
Identifiers:

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Taxonomy
Malawian children with mild malaria following an episode of severe malaria: peri...
Malawian children with mild malaria following an episode of severe malaria: peripheral whole blood
Accession: GDS4259

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004012929	Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 11, 2020)	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004012929

Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 11, 2020)

maternal

research

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	maternal	yes	1	not provided	not provided	not provided	not provided	research

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 Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital, SCV004012929.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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