NM_004448.4(ERBB2):c.3296A>G (p.Gln1099Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 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:: RCV003702135.3

Allele description [Variation Report for NM_004448.4(ERBB2):c.3296A>G (p.Gln1099Arg)]

NM_004448.4(ERBB2):c.3296A>G (p.Gln1099Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_004448.4(ERBB2):c.3296A>G (p.Gln1099Arg)

HGVS:

NC_000017.11:g.39727431A>G
NG_007503.1:g.44292A>G
NM_001005862.3:c.3206A>G
NM_001289936.2:c.3251A>G
NM_001289937.2:c.3160-258A>G
NM_001382782.1:c.3206A>G
NM_001382783.1:c.3206A>G
NM_001382784.1:c.3413A>G
NM_001382785.1:c.3398A>G
NM_001382786.1:c.3377A>G
NM_001382787.1:c.3371A>G
NM_001382788.1:c.3326A>G
NM_001382789.1:c.3317A>G
NM_001382790.1:c.3293A>G
NM_001382791.1:c.3287A>G
NM_001382792.1:c.3260A>G
NM_001382793.1:c.3254A>G
NM_001382794.1:c.3254A>G
NM_001382795.1:c.3248A>G
NM_001382796.1:c.3209A>G
NM_001382797.1:c.3197A>G
NM_001382798.1:c.3140A>G
NM_001382799.1:c.3116A>G
NM_001382800.1:c.3110A>G
NM_001382801.1:c.3092A>G
NM_001382802.1:c.3038A>G
NM_001382803.1:c.3118-258A>G
NM_001382804.1:c.2468A>G
NM_001382805.1:c.2345A>G
NM_001382806.1:c.2258A>G
NM_004448.4:c.3296A>GMANE SELECT
NP_001005862.1:p.Gln1069Arg
NP_001005862.1:p.Gln1069Arg
NP_001276865.1:p.Gln1084Arg
NP_001276865.1:p.Gln1084Arg
NP_001369711.1:p.Gln1069Arg
NP_001369712.1:p.Gln1069Arg
NP_001369713.1:p.Gln1138Arg
NP_001369714.1:p.Gln1133Arg
NP_001369715.1:p.Gln1126Arg
NP_001369716.1:p.Gln1124Arg
NP_001369717.1:p.Gln1109Arg
NP_001369718.1:p.Gln1106Arg
NP_001369719.1:p.Gln1098Arg
NP_001369720.1:p.Gln1096Arg
NP_001369721.1:p.Gln1087Arg
NP_001369722.1:p.Gln1085Arg
NP_001369723.1:p.Gln1085Arg
NP_001369724.1:p.Gln1083Arg
NP_001369725.1:p.Gln1070Arg
NP_001369726.1:p.Gln1066Arg
NP_001369727.1:p.Gln1047Arg
NP_001369728.1:p.Gln1039Arg
NP_001369729.1:p.Gln1037Arg
NP_001369730.1:p.Gln1031Arg
NP_001369731.1:p.Gln1013Arg
NP_001369733.1:p.Gln823Arg
NP_001369734.1:p.Gln782Arg
NP_001369735.1:p.Gln753Arg
NP_004439.2:p.Gln1099Arg
NP_004439.2:p.Gln1099Arg
LRG_724t1:c.3206A>G
LRG_724t2:c.3296A>G
LRG_724t4:c.3251A>G
LRG_724:g.44292A>G
LRG_724p1:p.Gln1069Arg
LRG_724p2:p.Gln1099Arg
LRG_724p4:p.Gln1084Arg
NC_000017.10:g.37883684A>G
NM_001005862.2:c.3206A>G
NM_001289936.1:c.3251A>G
NM_004448.3:c.3296A>G
NR_110535.2:n.3534A>G

Protein change:

Q1013R

Molecular consequence:

NM_001289937.2:c.3160-258A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001382803.1:c.3118-258A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001005862.3:c.3206A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289936.2:c.3251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382782.1:c.3206A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382783.1:c.3206A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382784.1:c.3413A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382785.1:c.3398A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382786.1:c.3377A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382787.1:c.3371A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382788.1:c.3326A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382789.1:c.3317A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382790.1:c.3293A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382791.1:c.3287A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382792.1:c.3260A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382793.1:c.3254A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382794.1:c.3254A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382795.1:c.3248A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382796.1:c.3209A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382797.1:c.3197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382798.1:c.3140A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382799.1:c.3116A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382800.1:c.3110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382801.1:c.3092A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382802.1:c.3038A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382804.1:c.2468A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382805.1:c.2345A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382806.1:c.2258A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004448.4:c.3296A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_110535.2:n.3534A>G - 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
SCV004463695	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 28, 2023)	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

SCV004463695

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 28, 2023)

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004463695.1

#	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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬† is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ERBB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1099 of the ERBB2 protein (p.Gln1099Arg).

#	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: Sep 29, 2024

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Relating variation to medicine