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NM_000051.4(ATM):c.7928-5T>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 2018
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:
RCV001026960.12

Allele description [Variation Report for NM_000051.4(ATM):c.7928-5T>C]

NM_000051.4(ATM):c.7928-5T>C

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.7928-5T>C
HGVS:
  • NC_000011.10:g.108333881T>C
  • NG_009830.1:g.116050T>C
  • NG_054724.1:g.140952A>G
  • NM_000051.4:c.7928-5T>CMANE SELECT
  • NM_001330368.2:c.641-24810A>G
  • NM_001351110.2:c.*38+1339A>G
  • NM_001351834.2:c.7928-5T>C
  • LRG_135t1:c.7928-5T>C
  • LRG_135:g.116050T>C
  • NC_000011.9:g.108204608T>C
  • NC_000011.9:g.108204608T>C
  • NM_000051.3:c.7928-5T>C
Links:
dbSNP: rs1591183992
NCBI 1000 Genomes Browser:
rs1591183992
Molecular consequence:
  • NM_000051.4:c.7928-5T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330368.2:c.641-24810A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+1339A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351834.2:c.7928-5T>C - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001189442Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 8, 2018) 		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, SCV001189442.4

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

Description

The c.7928-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 53 in the ATM gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. 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