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NM_004448.4(ERBB2):c.3688C>T (p.Arg1230Trp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 15, 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:
RCV001936101.6

Allele description [Variation Report for NM_004448.4(ERBB2):c.3688C>T (p.Arg1230Trp)]

NM_004448.4(ERBB2):c.3688C>T (p.Arg1230Trp)

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.3688C>T (p.Arg1230Trp)
HGVS:
  • NC_000017.11:g.39727964C>T
  • NG_007503.1:g.44825C>T
  • NM_001005862.3:c.3598C>T
  • NM_001289936.2:c.3643C>T
  • NM_001289937.2:c.*267C>T
  • NM_001382782.1:c.3598C>T
  • NM_001382783.1:c.3598C>T
  • NM_001382784.1:c.3805C>T
  • NM_001382785.1:c.3790C>T
  • NM_001382786.1:c.3769C>T
  • NM_001382787.1:c.3763C>T
  • NM_001382788.1:c.3718C>T
  • NM_001382789.1:c.3709C>T
  • NM_001382790.1:c.3685C>T
  • NM_001382791.1:c.3679C>T
  • NM_001382792.1:c.3652C>T
  • NM_001382793.1:c.3646C>T
  • NM_001382794.1:c.3646C>T
  • NM_001382795.1:c.3640C>T
  • NM_001382796.1:c.3601C>T
  • NM_001382797.1:c.3589C>T
  • NM_001382798.1:c.3532C>T
  • NM_001382799.1:c.3508C>T
  • NM_001382800.1:c.3502C>T
  • NM_001382801.1:c.3484C>T
  • NM_001382802.1:c.3430C>T
  • NM_001382803.1:c.*267C>T
  • NM_001382804.1:c.2860C>T
  • NM_001382805.1:c.2737C>T
  • NM_001382806.1:c.2650C>T
  • NM_004448.4:c.3688C>TMANE SELECT
  • NP_001005862.1:p.Arg1200Trp
  • NP_001276865.1:p.Arg1215Trp
  • NP_001369711.1:p.Arg1200Trp
  • NP_001369712.1:p.Arg1200Trp
  • NP_001369713.1:p.Arg1269Trp
  • NP_001369714.1:p.Arg1264Trp
  • NP_001369715.1:p.Arg1257Trp
  • NP_001369716.1:p.Arg1255Trp
  • NP_001369717.1:p.Arg1240Trp
  • NP_001369718.1:p.Arg1237Trp
  • NP_001369719.1:p.Arg1229Trp
  • NP_001369720.1:p.Arg1227Trp
  • NP_001369721.1:p.Arg1218Trp
  • NP_001369722.1:p.Arg1216Trp
  • NP_001369723.1:p.Arg1216Trp
  • NP_001369724.1:p.Arg1214Trp
  • NP_001369725.1:p.Arg1201Trp
  • NP_001369726.1:p.Arg1197Trp
  • NP_001369727.1:p.Arg1178Trp
  • NP_001369728.1:p.Arg1170Trp
  • NP_001369729.1:p.Arg1168Trp
  • NP_001369730.1:p.Arg1162Trp
  • NP_001369731.1:p.Arg1144Trp
  • NP_001369733.1:p.Arg954Trp
  • NP_001369734.1:p.Arg913Trp
  • NP_001369735.1:p.Arg884Trp
  • NP_004439.2:p.Arg1230Trp
  • LRG_724:g.44825C>T
  • NC_000017.10:g.37884217C>T
  • NR_110535.2:n.3926C>T
Protein change:
R1144W
Links:
dbSNP: rs769940977
NCBI 1000 Genomes Browser:
rs769940977
Molecular consequence:
  • NM_001289937.2:c.*267C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001382803.1:c.*267C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001005862.3:c.3598C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289936.2:c.3643C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382782.1:c.3598C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382783.1:c.3598C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382784.1:c.3805C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382785.1:c.3790C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382786.1:c.3769C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382787.1:c.3763C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382788.1:c.3718C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382789.1:c.3709C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382790.1:c.3685C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382791.1:c.3679C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382792.1:c.3652C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382793.1:c.3646C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382794.1:c.3646C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382795.1:c.3640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382796.1:c.3601C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382797.1:c.3589C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382798.1:c.3532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382799.1:c.3508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382800.1:c.3502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382801.1:c.3484C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382802.1:c.3430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382804.1:c.2860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382805.1:c.2737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382806.1:c.2650C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004448.4:c.3688C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110535.2:n.3926C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002202862Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 15, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

HER2 exon 27 mutations predict worse survival of breast cancer patients, especially in HER2-negative patients.

Si P, Chen T, Fang B, Yao J, Liu G, Chen H, Zhai B, Li W.

Cancer Med. 2017 Dec;6(12):2832-2839. doi: 10.1002/cam4.1236. Epub 2017 Oct 26.

PubMed [citation]
PMID:
29072371
PMCID:
PMC5727320

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, SCV002202862.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1230 of the ERBB2 protein (p.Arg1230Trp). This variant is present in population databases (rs769940977, gnomAD 0.005%). This missense change has been observed in individual(s) with breast cancer (PMID: 29072371). ClinVar contains an entry for this variant (Variation ID: 1428040). 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 disruptive. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024