NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) AND Non-small cell lung carcinoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 15, 2012
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:: RCV000038123.5

Allele description [Variation Report for NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)]

NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)

Gene:

ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)

Other names:

p.Tyr772_Ala775dup

HGVS:

NC_000017.11:g.39724731_39724742dup
NG_007503.1:g.41592_41603dup
NM_001005862.3:c.2223_2234dup
NM_001289936.2:c.2268_2279dup
NM_001289937.2:c.2313_2324dup
NM_001382782.1:c.2223_2234dup
NM_001382783.1:c.2223_2234dup
NM_001382784.1:c.2430_2441dup
NM_001382785.1:c.2415_2426dup
NM_001382786.1:c.2394_2405dup
NM_001382787.1:c.2388_2399dup
NM_001382788.1:c.2343_2354dup
NM_001382789.1:c.2334_2345dup
NM_001382790.1:c.2310_2321dup
NM_001382791.1:c.2304_2315dup
NM_001382792.1:c.2277_2288dup
NM_001382793.1:c.2271_2282dup
NM_001382794.1:c.2271_2282dup
NM_001382795.1:c.2265_2276dup
NM_001382796.1:c.2313_2324dup
NM_001382797.1:c.2214_2225dup
NM_001382798.1:c.2313_2324dup
NM_001382799.1:c.2133_2144dup
NM_001382800.1:c.2308-318_2308-307dup
NM_001382801.1:c.2265_2276dup
NM_001382802.1:c.2055_2066dup
NM_001382803.1:c.2271_2282dup
NM_001382804.1:c.1485_1496dup
NM_001382805.1:c.2208+1071_2208+1082dup
NM_001382806.1:c.1275_1286dup
NM_004448.4:c.2313_2324dupMANE SELECT
NP_001005862.1:p.Tyr742_Ala745dup
NP_001276865.1:p.Tyr757_Ala760dup
NP_001276866.1:p.Tyr772_Ala775dup
NP_001369711.1:p.Tyr742_Ala745dup
NP_001369712.1:p.Tyr742_Ala745dup
NP_001369713.1:p.Tyr811_Ala814dup
NP_001369714.1:p.Tyr806_Ala809dup
NP_001369715.1:p.Tyr799_Ala802dup
NP_001369716.1:p.Tyr797_Ala800dup
NP_001369717.1:p.Tyr782_Ala785dup
NP_001369718.1:p.Tyr779_Ala782dup
NP_001369719.1:p.Tyr771_Ala774dup
NP_001369720.1:p.Tyr769_Ala772dup
NP_001369721.1:p.Tyr760_Ala763dup
NP_001369722.1:p.Tyr758_Ala761dup
NP_001369723.1:p.Tyr758_Ala761dup
NP_001369724.1:p.Tyr756_Ala759dup
NP_001369725.1:p.Tyr772_Ala775dup
NP_001369726.1:p.Tyr739_Ala742dup
NP_001369727.1:p.Tyr772_Ala775dup
NP_001369728.1:p.Tyr712_Ala715dup
NP_001369730.1:p.Tyr756_Ala759dup
NP_001369731.1:p.Tyr686_Ala689dup
NP_001369732.1:p.Tyr758_Ala761dup
NP_001369733.1:p.Tyr496_Ala499dup
NP_001369735.1:p.Tyr426_Ala429dup
NP_004439.2:p.Tyr772_Ala775dup
LRG_724:g.41592_41603dup
NC_000017.10:g.37880984_37880995dup
NC_000017.10:g.37880995_37880996insATACGTGATGGC
NR_110535.2:n.2551_2562dup
c.2311_2322dup
c.2313_2324dup

Nucleotide change:

INS/DUP, NT2322

Links:

OMIM: 164870.0003; dbSNP: rs397516975

NCBI 1000 Genomes Browser:

rs397516975

Molecular consequence:

NM_001005862.3:c.2223_2234dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001289936.2:c.2268_2279dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001289937.2:c.2313_2324dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382782.1:c.2223_2234dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382783.1:c.2223_2234dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382784.1:c.2430_2441dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382785.1:c.2415_2426dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382786.1:c.2394_2405dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382787.1:c.2388_2399dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382788.1:c.2343_2354dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382789.1:c.2334_2345dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382790.1:c.2310_2321dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382791.1:c.2304_2315dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382792.1:c.2277_2288dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382793.1:c.2271_2282dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382794.1:c.2271_2282dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382795.1:c.2265_2276dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382796.1:c.2313_2324dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382797.1:c.2214_2225dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382798.1:c.2313_2324dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382799.1:c.2133_2144dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382801.1:c.2265_2276dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382802.1:c.2055_2066dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382803.1:c.2271_2282dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382804.1:c.1485_1496dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382806.1:c.1275_1286dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_004448.4:c.2313_2324dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382800.1:c.2308-318_2308-307dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001382805.1:c.2208+1071_2208+1082dup - intron variant - [Sequence Ontology: SO:0001627]
NR_110535.2:n.2551_2562dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Non-small cell lung carcinoma (NSCLC)
Synonyms:: Non-small cell lung cancer
Identifiers:: MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

Recent activity

Clear Turn Off Turn On

hypothetical protein/PHD and RING finger domain-containing protein [Blumeria hor...
hypothetical protein/PHD and RING finger domain-containing protein [Blumeria hordei DH14]
gi|528293665|emb|CCU81246.1|

Protein
Grylloblatta rothi voucher SDS14-066D ATP-dependent protease PIM1 LON-like gene,...
Grylloblatta rothi voucher SDS14-066D ATP-dependent protease PIM1 LON-like gene, partial sequence
gi|1594521939|gb|MH946093.1|

Nucleotide
Grylloblatta rothi voucher SDS14-088A anti-silencing protein-like gene, partial ...
Grylloblatta rothi voucher SDS14-088A anti-silencing protein-like gene, partial sequence
gi|1594522121|gb|MH946275.1|

Nucleotide
Geodermatophilus chilensis strain B12 NODE_349, whole genome shotgun sequence
Geodermatophilus chilensis strain B12 NODE_349, whole genome shotgun sequence
gi|1285184885|ref|NZ_NVPT01000349.1 |WGS:NZ_NVPT01|NODE_349

Nucleotide
Grylloblatta rothi voucher SDS14-067 hypothetical protein-like gene, partial seq...
Grylloblatta rothi voucher SDS14-067 hypothetical protein-like gene, partial sequence
gi|1594522301|gb|MH946455.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061789	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (May 15, 2012)	somatic	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

SCV000061789

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(May 15, 2012)

somatic

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	somatic	not provided	37	36	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061789.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	37	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	not provided	not provided	not provided		37	not provided	36	not provided

Last Updated: Apr 20, 2024

ClinVar

Relating variation to medicine