NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jun 8, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000129865.4

Allele description [Variation Report for NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)]

NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
HGVS:
  • NC_000011.10:g.108365335C>T
  • NG_009830.1:g.147504C>T
  • NG_054724.1:g.109498G>A
  • NM_000051.4:c.8998C>TMANE SELECT
  • NM_001330368.2:c.640+20585G>A
  • NM_001351110.2:c.694+20585G>A
  • NM_001351834.2:c.8998C>T
  • NP_000042.3:p.Gln3000Ter
  • NP_001338763.1:p.Gln3000Ter
  • LRG_135t1:c.8998C>T
  • LRG_135:g.147504C>T
  • NC_000011.9:g.108236062C>T
  • NC_000011.9:g.108236062C>T
  • NM_000051.3:c.8998C>T
  • p.Q3000*
Protein change:
Q3000*
Links:
dbSNP: rs587781698
NCBI 1000 Genomes Browser:
rs587781698
Molecular consequence:
  • NM_001330368.2:c.640+20585G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.694+20585G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.8998C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.8998C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000184682Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jun 8, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000687868Color Health, Inccriteria provided, single submitter
Pathogenic
(Jun 8, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

Laake K, Jansen L, Hahnemann JM, Brondum-Nielsen K, Lönnqvist T, Kääriäinen H, Sankila R, Lähdesmäki A, Hammarström L, Yuen J, Tretli S, Heiberg A, Olsen JH, Tucker M, Kleinerman R, Børresen-Dale AL.

Hum Mutat. 2000 Sep;16(3):232-46.

PubMed [citation]
PMID:
10980530

ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

Broeks A, de Klein A, Floore AN, Muijtjens M, Kleijer WJ, Jaspers NG, van 't Veer LJ.

Hum Mutat. 1998;12(5):330-7.

PubMed [citation]
PMID:
9792409
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000184682.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.Q3000* pathogenic mutation (also known as c.8998C>T), located in coding exon 62 of the ATM gene, results from a C to T substitution at nucleotide position 8998. This changes the amino acid from a Q to a stop codon within coding exon 62. Several protein truncating mutations associated with ataxia telangiectasia downstream of the p.Q3000* alteration have been reported in the literature (Broeks A et al. Hum. Mutat. 1998;12:330-7; Laake K et al. Hum. Mutat. 2000; 16:232-46). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Health, Inc, SCV000687868.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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