NM_004448.4(ERBB2):c.3611C>G (p.Ala1204Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 27, 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:: RCV001948329.5

Allele description [Variation Report for NM_004448.4(ERBB2):c.3611C>G (p.Ala1204Gly)]

NM_004448.4(ERBB2):c.3611C>G (p.Ala1204Gly)

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.3611C>G (p.Ala1204Gly)

HGVS:

NC_000017.11:g.39727887C>G
NG_007503.1:g.44748C>G
NM_001005862.3:c.3521C>G
NM_001289936.2:c.3566C>G
NM_001289937.2:c.*190C>G
NM_001382782.1:c.3521C>G
NM_001382783.1:c.3521C>G
NM_001382784.1:c.3728C>G
NM_001382785.1:c.3713C>G
NM_001382786.1:c.3692C>G
NM_001382787.1:c.3686C>G
NM_001382788.1:c.3641C>G
NM_001382789.1:c.3632C>G
NM_001382790.1:c.3608C>G
NM_001382791.1:c.3602C>G
NM_001382792.1:c.3575C>G
NM_001382793.1:c.3569C>G
NM_001382794.1:c.3569C>G
NM_001382795.1:c.3563C>G
NM_001382796.1:c.3524C>G
NM_001382797.1:c.3512C>G
NM_001382798.1:c.3455C>G
NM_001382799.1:c.3431C>G
NM_001382800.1:c.3425C>G
NM_001382801.1:c.3407C>G
NM_001382802.1:c.3353C>G
NM_001382803.1:c.*190C>G
NM_001382804.1:c.2783C>G
NM_001382805.1:c.2660C>G
NM_001382806.1:c.2573C>G
NM_004448.4:c.3611C>GMANE SELECT
NP_001005862.1:p.Ala1174Gly
NP_001276865.1:p.Ala1189Gly
NP_001369711.1:p.Ala1174Gly
NP_001369712.1:p.Ala1174Gly
NP_001369713.1:p.Ala1243Gly
NP_001369714.1:p.Ala1238Gly
NP_001369715.1:p.Ala1231Gly
NP_001369716.1:p.Ala1229Gly
NP_001369717.1:p.Ala1214Gly
NP_001369718.1:p.Ala1211Gly
NP_001369719.1:p.Ala1203Gly
NP_001369720.1:p.Ala1201Gly
NP_001369721.1:p.Ala1192Gly
NP_001369722.1:p.Ala1190Gly
NP_001369723.1:p.Ala1190Gly
NP_001369724.1:p.Ala1188Gly
NP_001369725.1:p.Ala1175Gly
NP_001369726.1:p.Ala1171Gly
NP_001369727.1:p.Ala1152Gly
NP_001369728.1:p.Ala1144Gly
NP_001369729.1:p.Ala1142Gly
NP_001369730.1:p.Ala1136Gly
NP_001369731.1:p.Ala1118Gly
NP_001369733.1:p.Ala928Gly
NP_001369734.1:p.Ala887Gly
NP_001369735.1:p.Ala858Gly
NP_004439.2:p.Ala1204Gly
LRG_724:g.44748C>G
NC_000017.10:g.37884140C>G
NR_110535.2:n.3849C>G

Protein change:

A1118G

Links:

dbSNP: rs373605104

NCBI 1000 Genomes Browser:

rs373605104

Molecular consequence:

NM_001289937.2:c.*190C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001382803.1:c.*190C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001005862.3:c.3521C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289936.2:c.3566C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382782.1:c.3521C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382783.1:c.3521C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382784.1:c.3728C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382785.1:c.3713C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382786.1:c.3692C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382787.1:c.3686C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382788.1:c.3641C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382789.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382790.1:c.3608C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382791.1:c.3602C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382792.1:c.3575C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382793.1:c.3569C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382794.1:c.3569C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382795.1:c.3563C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382796.1:c.3524C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382797.1:c.3512C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382798.1:c.3455C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382799.1:c.3431C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382800.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382801.1:c.3407C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382802.1:c.3353C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382804.1:c.2783C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382805.1:c.2660C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382806.1:c.2573C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004448.4:c.3611C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_110535.2:n.3849C>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
SCV002206648	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 27, 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

SCV002206648

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 27, 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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002206648.3

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

Description

This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ERBB2-related conditions. This sequence change replaces alanine with glycine at codon 1204 of the ERBB2 protein (p.Ala1204Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine.

#	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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