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NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser) AND Neoplasm of ovary

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 30, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000014894.5

Allele description [Variation Report for NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser)]

NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser)

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.2570A>G (p.Asn857Ser)
HGVS:
  • NC_000017.11:g.39725125A>G
  • NG_007503.1:g.41986A>G
  • NM_001005862.3:c.2480A>G
  • NM_001289936.2:c.2525A>G
  • NM_001289937.2:c.2570A>G
  • NM_001382782.1:c.2480A>G
  • NM_001382783.1:c.2480A>G
  • NM_001382784.1:c.2687A>G
  • NM_001382785.1:c.2672A>G
  • NM_001382786.1:c.2651A>G
  • NM_001382787.1:c.2645A>G
  • NM_001382788.1:c.2600A>G
  • NM_001382789.1:c.2591A>G
  • NM_001382790.1:c.2567A>G
  • NM_001382791.1:c.2561A>G
  • NM_001382792.1:c.2534A>G
  • NM_001382793.1:c.2528A>G
  • NM_001382794.1:c.2528A>G
  • NM_001382795.1:c.2522A>G
  • NM_001382796.1:c.2570A>G
  • NM_001382797.1:c.2471A>G
  • NM_001382798.1:c.2494-202A>G
  • NM_001382799.1:c.2390A>G
  • NM_001382800.1:c.2384A>G
  • NM_001382801.1:c.2446-202A>G
  • NM_001382802.1:c.2312A>G
  • NM_001382803.1:c.2528A>G
  • NM_001382804.1:c.1742A>G
  • NM_001382805.1:c.2208+1465A>G
  • NM_001382806.1:c.1532A>G
  • NM_004448.4:c.2570A>GMANE SELECT
  • NP_001005862.1:p.Asn827Ser
  • NP_001276865.1:p.Asn842Ser
  • NP_001276866.1:p.Asn857Ser
  • NP_001369711.1:p.Asn827Ser
  • NP_001369712.1:p.Asn827Ser
  • NP_001369713.1:p.Asn896Ser
  • NP_001369714.1:p.Asn891Ser
  • NP_001369715.1:p.Asn884Ser
  • NP_001369716.1:p.Asn882Ser
  • NP_001369717.1:p.Asn867Ser
  • NP_001369718.1:p.Asn864Ser
  • NP_001369719.1:p.Asn856Ser
  • NP_001369720.1:p.Asn854Ser
  • NP_001369721.1:p.Asn845Ser
  • NP_001369722.1:p.Asn843Ser
  • NP_001369723.1:p.Asn843Ser
  • NP_001369724.1:p.Asn841Ser
  • NP_001369725.1:p.Asn857Ser
  • NP_001369726.1:p.Asn824Ser
  • NP_001369728.1:p.Asn797Ser
  • NP_001369729.1:p.Asn795Ser
  • NP_001369731.1:p.Asn771Ser
  • NP_001369732.1:p.Asn843Ser
  • NP_001369733.1:p.Asn581Ser
  • NP_001369735.1:p.Asn511Ser
  • NP_004439.2:p.Asn857Ser
  • LRG_724:g.41986A>G
  • NC_000017.10:g.37881378A>G
  • NR_110535.2:n.2808A>G
Protein change:
N511S; ASN857SER
Links:
OMIM: 164870.0008; dbSNP: rs28933370
NCBI 1000 Genomes Browser:
rs28933370
Molecular consequence:
  • NM_001382798.1:c.2494-202A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382801.1:c.2446-202A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382805.1:c.2208+1465A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005862.3:c.2480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289936.2:c.2525A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289937.2:c.2570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382782.1:c.2480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382783.1:c.2480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382784.1:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382785.1:c.2672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382786.1:c.2651A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382787.1:c.2645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382788.1:c.2600A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382789.1:c.2591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382790.1:c.2567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382791.1:c.2561A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382792.1:c.2534A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382793.1:c.2528A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382794.1:c.2528A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382795.1:c.2522A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382796.1:c.2570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382797.1:c.2471A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382799.1:c.2390A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382800.1:c.2384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382802.1:c.2312A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382803.1:c.2528A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382804.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382806.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004448.4:c.2570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110535.2:n.2808A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Neoplasm of ovary
Synonyms:
Ovarian tumor; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; OMIM: 167000; Human Phenotype Ontology: HP:0100615

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035149OMIM
no assertion criteria provided
Pathogenic
(Sep 30, 2004) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Lung cancer: intragenic ERBB2 kinase mutations in tumours.

Stephens P, Hunter C, Bignell G, Edkins S, Davies H, Teague J, Stevens C, O'Meara S, Smith R, Parker A, Barthorpe A, Blow M, Brackenbury L, Butler A, Clarke O, Cole J, Dicks E, Dike A, Drozd A, Edwards K, Forbes S, Foster R, et al.

Nature. 2004 Sep 30;431(7008):525-6.

PubMed [citation]
PMID:
15457249

Details of each submission

From OMIM, SCV000035149.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an ovarian tumor (167000), the Cancer Genome Project and Collaborative Group (2004) identified a somatic 2570A-G transition in the ERBB2 gene that caused an asn857-to-ser (N857S) substitution.

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

Last Updated: Apr 23, 2022