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NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2023
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:
RCV003362733.2

Allele description [Variation Report for NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr)]

NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr)

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.7942C>A (p.Pro2648Thr)
HGVS:
  • NC_000011.10:g.108333900C>A
  • NG_009830.1:g.116069C>A
  • NG_054724.1:g.140933G>T
  • NM_000051.4:c.7942C>AMANE SELECT
  • NM_001330368.2:c.641-24829G>T
  • NM_001351110.2:c.*38+1320G>T
  • NM_001351834.2:c.7942C>A
  • NP_000042.3:p.Pro2648Thr
  • NP_000042.3:p.Pro2648Thr
  • NP_001338763.1:p.Pro2648Thr
  • LRG_135t1:c.7942C>A
  • LRG_135:g.116069C>A
  • LRG_135p1:p.Pro2648Thr
  • NC_000011.9:g.108204627C>A
  • NM_000051.3:c.7942C>A
Protein change:
P2648T
Links:
dbSNP: rs878853547
NCBI 1000 Genomes Browser:
rs878853547
Molecular consequence:
  • NM_001330368.2:c.641-24829G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+1320G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.7942C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.7942C>A - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004053908Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 17, 2023) 		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, SCV004053908.2

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

Description

The p.P2648T variant (also known as c.7942C>A), located in coding exon 53 of the ATM gene, results from a C to A substitution at nucleotide position 7942. The proline at codon 2648 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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: Nov 10, 2024