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NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 21, 2021
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:
RCV002418936.9

Allele description [Variation Report for NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del)]

NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del)
HGVS:
  • NC_000011.10:g.108333935AGA[1]
  • NG_009830.1:g.116104AGA[1]
  • NG_054724.1:g.140893TCT[1]
  • NM_000051.4:c.7977AGA[1]MANE SELECT
  • NM_001330368.2:c.641-24866_641-24864del
  • NM_001351110.2:c.*38+1283_*38+1285del
  • NM_001351834.2:c.7977AGA[1]
  • NP_000042.3:p.Glu2660del
  • NP_000042.3:p.Glu2660del
  • NP_001338763.1:p.Glu2660del
  • LRG_135t1:c.7977_7979AGA[1]
  • LRG_135:g.116104AGA[1]
  • LRG_135p1:p.Glu2660del
  • NC_000011.9:g.108204662AGA[1]
  • NC_000011.9:g.108204662_108204664del
  • NM_000051.3:c.7977_7979AGA[1]
  • NM_000051.3:c.7980_7982delAGA
Protein change:
E2660del
Links:
dbSNP: rs2086551461
NCBI 1000 Genomes Browser:
rs2086551461
Molecular consequence:
  • NM_000051.4:c.7977AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001351834.2:c.7977AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330368.2:c.641-24866_641-24864del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+1283_*38+1285del - intron variant - [Sequence Ontology: SO:0001627]

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002678050Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 21, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002678050.2

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

Description

The c.7980_7982delAGA variant (also known as p.E2660del) is located in coding exon 53 of the ATM gene. This variant results from an in-frame AGA deletion at nucleotide positions 7980 to 7982. This results in the in-frame deletion of a glutamic acid at codon 2660. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024