NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val) AND ERBB2 POLYMORPHISM

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 1, 1993
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:: RCV000014887.2

Allele description [Variation Report for NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val)]

NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val)

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.1963A>G (p.Ile655Val)

Other names:

V655I

HGVS:

NC_000017.11:g.39723335A>G
NG_007503.1:g.40196A>G
NM_001005862.3:c.1873A>G
NM_001289936.2:c.1918A>G
NM_001289937.2:c.1963A>G
NM_001382782.1:c.1873A>G
NM_001382783.1:c.1873A>G
NM_001382784.1:c.2080A>G
NM_001382785.1:c.2065A>G
NM_001382786.1:c.2080A>G
NM_001382787.1:c.2038A>G
NM_001382788.1:c.1993A>G
NM_001382789.1:c.1984A>G
NM_001382790.1:c.1960A>G
NM_001382791.1:c.1954A>G
NM_001382792.1:c.1963A>G
NM_001382793.1:c.1963A>G
NM_001382794.1:c.1963A>G
NM_001382795.1:c.1915A>G
NM_001382796.1:c.1963A>G
NM_001382797.1:c.1963A>G
NM_001382798.1:c.1963A>G
NM_001382799.1:c.1783A>G
NM_001382800.1:c.1963A>G
NM_001382801.1:c.1915A>G
NM_001382802.1:c.1705A>G
NM_001382803.1:c.1963A>G
NM_001382804.1:c.1135A>G
NM_001382805.1:c.1963A>G
NM_001382806.1:c.1223-629A>G
NM_004448.4:c.1963A>GMANE SELECT
NP_001005862.1:p.Ile625Val
NP_001276865.1:p.Ile640Val
NP_001276866.1:p.Ile655Val
NP_001369711.1:p.Ile625Val
NP_001369712.1:p.Ile625Val
NP_001369713.1:p.Ile694Val
NP_001369714.1:p.Ile689Val
NP_001369715.1:p.Ile694Val
NP_001369716.1:p.Ile680Val
NP_001369717.1:p.Ile665Val
NP_001369718.1:p.Ile662Val
NP_001369719.1:p.Ile654Val
NP_001369720.1:p.Ile652Val
NP_001369721.1:p.Ile655Val
NP_001369722.1:p.Ile655Val
NP_001369723.1:p.Ile655Val
NP_001369724.1:p.Ile639Val
NP_001369725.1:p.Ile655Val
NP_001369726.1:p.Ile655Val
NP_001369727.1:p.Ile655Val
NP_001369728.1:p.Ile595Val
NP_001369729.1:p.Ile655Val
NP_001369730.1:p.Ile639Val
NP_001369731.1:p.Ile569Val
NP_001369732.1:p.Ile655Val
NP_001369733.1:p.Ile379Val
NP_001369734.1:p.Ile655Val
NP_004439.2:p.Ile655Val
LRG_724t4:c.1918A>G
LRG_724:g.40196A>G
NC_000017.10:g.37879588A>G
NR_110535.2:n.2201A>G

Protein change:

I379V; VAL655ILE

Links:

OMIM: 164870.0001; dbSNP: rs1136201

NCBI 1000 Genomes Browser:

rs1136201

Molecular consequence:

NM_001382806.1:c.1223-629A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001005862.3:c.1873A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289936.2:c.1918A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289937.2:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382782.1:c.1873A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382783.1:c.1873A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382784.1:c.2080A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382785.1:c.2065A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382786.1:c.2080A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382787.1:c.2038A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382788.1:c.1993A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382789.1:c.1984A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382790.1:c.1960A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382791.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382792.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382793.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382794.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382795.1:c.1915A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382796.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382797.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382798.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382799.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382800.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382801.1:c.1915A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382802.1:c.1705A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382803.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382804.1:c.1135A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382805.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004448.4:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_110535.2:n.2201A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: ERBB2 POLYMORPHISM
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035142	OMIM	no assertion criteria provided	Benign (Feb 1, 1993)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 3003577, 2999974, 1681519, 8095488

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035142

OMIM

no assertion criteria provided

Benign
(Feb 1, 1993)

germline

literature only

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Yamamoto T, Ikawa S, Akiyama T, Semba K, Nomura N, Miyajima N, Saito T, Toyoshima K.

Nature. 1986 Jan 16-22;319(6050):230-4.

PubMed [citation]

PMID:: 3003577

Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene.

Coussens L, Yang-Feng TL, Liao YC, Chen E, Gray A, McGrath J, Seeburg PH, Libermann TA, Schlessinger J, Francke U, et al.

Science. 1985 Dec 6;230(4730):1132-9.

PubMed [citation]

PMID:: 2999974

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000035142.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

Description

The sequences of human ERBB2 cDNA clones reported by Yamamoto et al. (1986) and Coussens et al. (1985) differed at codon 655, which encoded isoleucine or valine, respectively. Papewalis et al. (1991) and Ehsani et al. (1993) described a G-to-A polymorphism in codon 655 responsible for this variation between GTC and ATC. See 164870.0002.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 29, 2024

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