NM_004448.4(ERBB2):c.462G>C (p.Leu154Phe) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 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:: RCV003552863.1

Allele description

NM_004448.4(ERBB2):c.462G>C (p.Leu154Phe)

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.462G>C (p.Leu154Phe)

HGVS:

NC_000017.11:g.39709340G>C
NG_007503.1:g.26201G>C
NM_001005862.3:c.372G>C
NM_001289936.2:c.417G>C
NM_001289937.2:c.462G>C
NM_001289938.2:c.372G>C
NM_001382782.1:c.372G>C
NM_001382783.1:c.372G>C
NM_001382784.1:c.462G>C
NM_001382785.1:c.462G>C
NM_001382786.1:c.462G>C
NM_001382787.1:c.537G>C
NM_001382788.1:c.462G>C
NM_001382789.1:c.462G>C
NM_001382790.1:c.462G>C
NM_001382791.1:c.453G>C
NM_001382792.1:c.462G>C
NM_001382793.1:c.462G>C
NM_001382794.1:c.462G>C
NM_001382795.1:c.462G>C
NM_001382796.1:c.462G>C
NM_001382797.1:c.462G>C
NM_001382798.1:c.462G>C
NM_001382799.1:c.440-518G>C
NM_001382800.1:c.462G>C
NM_001382801.1:c.462G>C
NM_001382802.1:c.462G>C
NM_001382803.1:c.462G>C
NM_001382804.1:c.74-2588G>C
NM_001382805.1:c.462G>C
NM_001382806.1:c.462G>C
NM_004448.4:c.462G>CMANE SELECT
NP_001005862.1:p.Leu124Phe
NP_001005862.1:p.Leu124Phe
NP_001276865.1:p.Leu139Phe
NP_001276865.1:p.Leu139Phe
NP_001276866.1:p.Leu154Phe
NP_001276867.1:p.Leu124Phe
NP_001276867.1:p.Leu124Phe
NP_001369711.1:p.Leu124Phe
NP_001369712.1:p.Leu124Phe
NP_001369713.1:p.Leu154Phe
NP_001369714.1:p.Leu154Phe
NP_001369715.1:p.Leu154Phe
NP_001369716.1:p.Leu179Phe
NP_001369717.1:p.Leu154Phe
NP_001369718.1:p.Leu154Phe
NP_001369719.1:p.Leu154Phe
NP_001369720.1:p.Leu151Phe
NP_001369721.1:p.Leu154Phe
NP_001369722.1:p.Leu154Phe
NP_001369723.1:p.Leu154Phe
NP_001369724.1:p.Leu154Phe
NP_001369725.1:p.Leu154Phe
NP_001369726.1:p.Leu154Phe
NP_001369727.1:p.Leu154Phe
NP_001369729.1:p.Leu154Phe
NP_001369730.1:p.Leu154Phe
NP_001369731.1:p.Leu154Phe
NP_001369732.1:p.Leu154Phe
NP_001369734.1:p.Leu154Phe
NP_001369735.1:p.Leu154Phe
NP_004439.2:p.Leu154Phe
NP_004439.2:p.Leu154Phe
LRG_724t1:c.372G>C
LRG_724t2:c.462G>C
LRG_724t3:c.372G>C
LRG_724t4:c.417G>C
LRG_724:g.26201G>C
LRG_724p1:p.Leu124Phe
LRG_724p2:p.Leu154Phe
LRG_724p3:p.Leu124Phe
LRG_724p4:p.Leu139Phe
NC_000017.10:g.37865593G>C
NM_001005862.2:c.372G>C
NM_001289936.1:c.417G>C
NM_001289938.1:c.372G>C
NM_004448.3:c.462G>C
NR_110535.2:n.700G>C

Protein change:

L124F

Molecular consequence:

NM_001382799.1:c.440-518G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001382804.1:c.74-2588G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001005862.3:c.372G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001289936.2:c.417G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001289937.2:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001289938.2:c.372G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382782.1:c.372G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382783.1:c.372G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382784.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382785.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382786.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382787.1:c.537G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382788.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382789.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382790.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382791.1:c.453G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382792.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382793.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382794.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382795.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382796.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382797.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382798.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382800.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382801.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382802.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382803.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382805.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382806.1:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004448.4:c.462G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_110535.2:n.700G>C - 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
SCV004265253	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 18, 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

SCV004265253

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 18, 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 Invitae, SCV004265253.1

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

Description

Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ERBB2 protein function. 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 affected with ERBB2-related conditions. This variant is present in population databases (rs757446217, gnomAD 0.02%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 154 of the ERBB2 protein (p.Leu154Phe).

#	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 20, 2024

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