NM_004448.4(ERBB2):c.383_384del (p.Pro128fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 17, 2021
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:: RCV002005936.3

Allele description [Variation Report for NM_004448.4(ERBB2):c.383_384del (p.Pro128fs)]

NM_004448.4(ERBB2):c.383_384del (p.Pro128fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_004448.4(ERBB2):c.383_384del (p.Pro128fs)

HGVS:

NC_000017.11:g.39708478_39708479del
NG_007503.1:g.25339_25340del
NM_001005862.3:c.293_294del
NM_001289936.2:c.338_339del
NM_001289937.2:c.383_384del
NM_001289938.2:c.293_294del
NM_001382782.1:c.293_294del
NM_001382783.1:c.293_294del
NM_001382784.1:c.383_384del
NM_001382785.1:c.383_384del
NM_001382786.1:c.383_384del
NM_001382787.1:c.383_384del
NM_001382788.1:c.383_384del
NM_001382789.1:c.383_384del
NM_001382790.1:c.383_384del
NM_001382791.1:c.374_375del
NM_001382792.1:c.383_384del
NM_001382793.1:c.383_384del
NM_001382794.1:c.383_384del
NM_001382795.1:c.383_384del
NM_001382796.1:c.383_384del
NM_001382797.1:c.383_384del
NM_001382798.1:c.383_384del
NM_001382799.1:c.383_384del
NM_001382800.1:c.383_384del
NM_001382801.1:c.383_384del
NM_001382802.1:c.383_384del
NM_001382803.1:c.383_384del
NM_001382804.1:c.74-3450_74-3449del
NM_001382805.1:c.383_384del
NM_001382806.1:c.383_384del
NM_004448.4:c.383_384delMANE SELECT
NP_001005862.1:p.Pro98fs
NP_001276865.1:p.Pro113fs
NP_001276866.1:p.Pro128fs
NP_001276867.1:p.Pro98fs
NP_001369711.1:p.Pro98fs
NP_001369712.1:p.Pro98fs
NP_001369713.1:p.Pro128fs
NP_001369714.1:p.Pro128fs
NP_001369715.1:p.Pro128fs
NP_001369716.1:p.Pro128fs
NP_001369717.1:p.Pro128fs
NP_001369718.1:p.Pro128fs
NP_001369719.1:p.Pro128fs
NP_001369720.1:p.Pro125fs
NP_001369721.1:p.Pro128fs
NP_001369722.1:p.Pro128fs
NP_001369723.1:p.Pro128fs
NP_001369724.1:p.Pro128fs
NP_001369725.1:p.Pro128fs
NP_001369726.1:p.Pro128fs
NP_001369727.1:p.Pro128fs
NP_001369728.1:p.Pro128fs
NP_001369729.1:p.Pro128fs
NP_001369730.1:p.Pro128fs
NP_001369731.1:p.Pro128fs
NP_001369732.1:p.Pro128fs
NP_001369734.1:p.Pro128fs
NP_001369735.1:p.Pro128fs
NP_004439.2:p.Pro128fs
LRG_724:g.25339_25340del
NC_000017.10:g.37864731_37864732del
NR_110535.2:n.621_622del

Protein change:

P113fs

Links:

dbSNP: rs2145444620

NCBI 1000 Genomes Browser:

rs2145444620

Molecular consequence:

NM_001005862.3:c.293_294del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001289936.2:c.338_339del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001289937.2:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001289938.2:c.293_294del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382782.1:c.293_294del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382783.1:c.293_294del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382784.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382785.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382786.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382787.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382788.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382789.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382790.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382791.1:c.374_375del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382792.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382793.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382794.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382795.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382796.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382797.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382798.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382799.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382800.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382801.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382802.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382803.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382805.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382806.1:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004448.4:c.383_384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382804.1:c.74-3450_74-3449del - intron variant - [Sequence Ontology: SO:0001627]
NR_110535.2:n.621_622del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002268997	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 17, 2021)	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

SCV002268997

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 17, 2021)

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, SCV002268997.3

#	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. This variant has not been reported in the literature in individuals with ERBB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro128Argfs*72) in the ERBB2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ERBB2 cause disease.

#	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 28, 2024

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