NM_004448.4(ERBB2):c.3493G>A (p.Ala1165Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 25, 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:: RCV003856030.2

Allele description [Variation Report for NM_004448.4(ERBB2):c.3493G>A (p.Ala1165Thr)]

NM_004448.4(ERBB2):c.3493G>A (p.Ala1165Thr)

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.3493G>A (p.Ala1165Thr)

HGVS:

NC_000017.11:g.39727769G>A
NG_007503.1:g.44630G>A
NM_001005862.3:c.3403G>A
NM_001289936.2:c.3448G>A
NM_001289937.2:c.*72G>A
NM_001382782.1:c.3403G>A
NM_001382783.1:c.3403G>A
NM_001382784.1:c.3610G>A
NM_001382785.1:c.3595G>A
NM_001382786.1:c.3574G>A
NM_001382787.1:c.3568G>A
NM_001382788.1:c.3523G>A
NM_001382789.1:c.3514G>A
NM_001382790.1:c.3490G>A
NM_001382791.1:c.3484G>A
NM_001382792.1:c.3457G>A
NM_001382793.1:c.3451G>A
NM_001382794.1:c.3451G>A
NM_001382795.1:c.3445G>A
NM_001382796.1:c.3406G>A
NM_001382797.1:c.3394G>A
NM_001382798.1:c.3337G>A
NM_001382799.1:c.3313G>A
NM_001382800.1:c.3307G>A
NM_001382801.1:c.3289G>A
NM_001382802.1:c.3235G>A
NM_001382803.1:c.*72G>A
NM_001382804.1:c.2665G>A
NM_001382805.1:c.2542G>A
NM_001382806.1:c.2455G>A
NM_004448.4:c.3493G>AMANE SELECT
NP_001005862.1:p.Ala1135Thr
NP_001005862.1:p.Ala1135Thr
NP_001276865.1:p.Ala1150Thr
NP_001276865.1:p.Ala1150Thr
NP_001369711.1:p.Ala1135Thr
NP_001369712.1:p.Ala1135Thr
NP_001369713.1:p.Ala1204Thr
NP_001369714.1:p.Ala1199Thr
NP_001369715.1:p.Ala1192Thr
NP_001369716.1:p.Ala1190Thr
NP_001369717.1:p.Ala1175Thr
NP_001369718.1:p.Ala1172Thr
NP_001369719.1:p.Ala1164Thr
NP_001369720.1:p.Ala1162Thr
NP_001369721.1:p.Ala1153Thr
NP_001369722.1:p.Ala1151Thr
NP_001369723.1:p.Ala1151Thr
NP_001369724.1:p.Ala1149Thr
NP_001369725.1:p.Ala1136Thr
NP_001369726.1:p.Ala1132Thr
NP_001369727.1:p.Ala1113Thr
NP_001369728.1:p.Ala1105Thr
NP_001369729.1:p.Ala1103Thr
NP_001369730.1:p.Ala1097Thr
NP_001369731.1:p.Ala1079Thr
NP_001369733.1:p.Ala889Thr
NP_001369734.1:p.Ala848Thr
NP_001369735.1:p.Ala819Thr
NP_004439.2:p.Ala1165Thr
NP_004439.2:p.Ala1165Thr
LRG_724t1:c.3403G>A
LRG_724t2:c.3493G>A
LRG_724t4:c.3448G>A
LRG_724:g.44630G>A
LRG_724p1:p.Ala1135Thr
LRG_724p2:p.Ala1165Thr
LRG_724p4:p.Ala1150Thr
NC_000017.10:g.37884022G>A
NM_001005862.2:c.3403G>A
NM_001289936.1:c.3448G>A
NM_004448.3:c.3493G>A
NR_110535.2:n.3731G>A

Protein change:

A1079T

Molecular consequence:

NM_001289937.2:c.*72G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001382803.1:c.*72G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001005862.3:c.3403G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001289936.2:c.3448G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382782.1:c.3403G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382783.1:c.3403G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382784.1:c.3610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382785.1:c.3595G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382786.1:c.3574G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382787.1:c.3568G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382788.1:c.3523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382789.1:c.3514G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382790.1:c.3490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382791.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382792.1:c.3457G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382793.1:c.3451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382794.1:c.3451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382795.1:c.3445G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382796.1:c.3406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382797.1:c.3394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382798.1:c.3337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382799.1:c.3313G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382800.1:c.3307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382801.1:c.3289G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382802.1:c.3235G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382804.1:c.2665G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382805.1:c.2542G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382806.1:c.2455G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004448.4:c.3493G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_110535.2:n.3731G>A - 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
SCV004655040	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 25, 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

SCV004655040

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 25, 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, SCV004655040.1

#	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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1165 of the ERBB2 protein (p.Ala1165Thr).

#	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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