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NM_000051.4(ATM):c.7575_7576insTTC (p.Ala2525_Arg2526insPhe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2016
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:
RCV000562666.12

Allele description [Variation Report for NM_000051.4(ATM):c.7575_7576insTTC (p.Ala2525_Arg2526insPhe)]

NM_000051.4(ATM):c.7575_7576insTTC (p.Ala2525_Arg2526insPhe)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Insertion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.7575_7576insTTC (p.Ala2525_Arg2526insPhe)
HGVS:
  • NC_000011.10:g.108331503_108331504insTTC
  • NG_009830.1:g.113672_113673insTTC
  • NG_054724.1:g.143329_143330insGAA
  • NM_000051.4:c.7575_7576insTTCMANE SELECT
  • NM_001330368.2:c.641-22433_641-22432insGAA
  • NM_001351110.2:c.*38+3716_*38+3717insGAA
  • NM_001351834.2:c.7575_7576insTTC
  • NM_152587.2:c.*1333_*1334insGAA
  • NP_000042.3:p.Ala2525_Arg2526insPhe
  • NP_000042.3:p.Ala2525_Arg2526insPhe
  • NP_001338763.1:p.Ala2525_Arg2526insPhe
  • LRG_135t1:c.7575_7576insTTC
  • LRG_135:g.113672_113673insTTC
  • LRG_135p1:p.Ala2525_Arg2526insPhe
  • NC_000011.9:g.108202230_108202231insTTC
  • NM_000051.3:c.7575_7576insTTC
  • NR_147053.3:n.2436_2437insGAA
Links:
dbSNP: rs1555124054
NCBI 1000 Genomes Browser:
rs1555124054
Molecular consequence:
  • NM_000051.4:c.7575_7576insTTC - inframe insertion - [Sequence Ontology: SO:0001821]
  • NM_001351834.2:c.7575_7576insTTC - inframe insertion - [Sequence Ontology: SO:0001821]
  • NM_001330368.2:c.641-22433_641-22432insGAA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+3716_*38+3717insGAA - intron variant - [Sequence Ontology: SO:0001627]
  • NR_147053.3:n.2436_2437insGAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000660549Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 23, 2016) 		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, SCV000660549.5

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

Description

The c.7575_7576insTTC variant (also known as p.A2525_R2526insF), located in coding exon 50 of the ATM gene, results from an in-frame insertion of 3 nucleotides between positions 7575 and 7576 and causes the insertion of a phenylalanine residue in a region which is well conserved in available vertebrate species. 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 6499 samples (12998 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 125000 alleles tested) in our clinical cohort. 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 13, 2024