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NM_000059.4(BRCA2):c.8461ATT[1] (p.Ile2822del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 21, 2015
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:
RCV000129419.5

Allele description [Variation Report for NM_000059.4(BRCA2):c.8461ATT[1] (p.Ile2822del)]

NM_000059.4(BRCA2):c.8461ATT[1] (p.Ile2822del)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.8461ATT[1] (p.Ile2822del)
HGVS:
  • NC_000013.11:g.32370531ATT[1]
  • NG_012772.3:g.60052ATT[1]
  • NM_000059.4:c.8461ATT[1]MANE SELECT
  • NP_000050.3:p.Ile2822del
  • LRG_293:g.60052ATT[1]
  • NC_000013.10:g.32944668ATT[1]
  • NC_000013.10:g.32944668_32944670del
  • NM_000059.3:c.8464_8466delATT
  • p.I2822del
Protein change:
I2822del
Links:
dbSNP: rs587781473
NCBI 1000 Genomes Browser:
rs587781473
Molecular consequence:
  • NM_000059.4:c.8461ATT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000184189Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 21, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000184189.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.8464_8466delATT variant (also known as p.I2822DEL) is located in coding exon 18 of the BRCA2 gene. This variant results from an in-frame deletion of 3 nucleotides (ATT) between positions 8464 and 8466 causing the removal of an isoleucine residue at codon 2822. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 150000 alleles tested) in our clinical cohort. This amino acid position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.8464_8466delATT remains unclear.

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

Last Updated: Sep 1, 2024