NM_004448.3(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) AND Breast neoplasm

Clinical significance:Likely pathogenic (Last evaluated: Jul 14, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000431743.1

Allele description [Variation Report for NM_004448.3(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys)]

NM_004448.3(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys)

Gene:
ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_004448.3(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys)
HGVS:
  • NC_000017.11:g.39724744_39724745insTGT
  • NG_007503.1:g.41605_41606insTGT
  • NM_001005862.2:c.2236_2237insTGT
  • NM_001289936.1:c.2281_2282insTGT
  • NM_001289937.1:c.2326_2327insTGT
  • NM_004448.3:c.2326_2327insTGT
  • NP_001005862.1:p.Gly746delinsValCys
  • NP_001276865.1:p.Gly761delinsValCys
  • NP_001276866.1:p.Gly776delinsValCys
  • NP_004439.2:p.Gly776delinsValCys
  • LRG_724t1:c.2236_2237insTGT
  • LRG_724t2:c.2326_2327insTGT
  • LRG_724t4:c.2281_2282insTGT
  • LRG_724:g.41605_41606insTGT
  • LRG_724p1:p.Gly746delinsValCys
  • LRG_724p2:p.Gly776delinsValCys
  • LRG_724p4:p.Gly761delinsValCys
  • NC_000017.10:g.37880997_37880998insTGT
  • NM_004448.2:c.2326_2327insTGT
  • NR_110535.1:n.2650_2651insTGT
  • c.2326_2327insTGT
Links:
dbSNP: rs397516979
NCBI 1000 Genomes Browser:
rs397516979
Molecular consequence:
  • NM_001005862.2:c.2236_2237insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001289936.1:c.2281_2282insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001289937.1:c.2326_2327insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_004448.3:c.2326_2327insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NR_110535.1:n.2650_2651insTGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Breast neoplasm
Synonyms:
Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000505685Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Jul 14, 2015)
somaticliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]
PMID:
25157968
PMCID:
PMC4210463

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505685.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

Support Center