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NM_000051.4(ATM):c.6433_6445del (p.Glu2145fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2014
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:
RCV000164992.10

Allele description [Variation Report for NM_000051.4(ATM):c.6433_6445del (p.Glu2145fs)]

NM_000051.4(ATM):c.6433_6445del (p.Glu2145fs)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.6433_6445del (p.Glu2145fs)
HGVS:
  • NC_000011.10:g.108320039_108320051del
  • NG_009830.1:g.102208_102220del
  • NG_054724.1:g.154784_154796del
  • NM_000051.4:c.6433_6445delMANE SELECT
  • NM_001330368.2:c.641-10978_641-10966del
  • NM_001351110.2:c.*39-10978_*39-10966del
  • NM_001351834.2:c.6433_6445del
  • NP_000042.3:p.Glu2145Metfs
  • NP_000042.3:p.Glu2145fs
  • NP_001338763.1:p.Glu2145fs
  • LRG_135t1:c.6433_6445del
  • LRG_135:g.102208_102220del
  • LRG_135p1:p.Glu2145Metfs
  • NC_000011.9:g.108190766_108190778del
  • NM_000051.3:c.6433_6445del13
  • NM_000051.3:c.6433_6445delGAAAGTCTCAAAT
  • p.E2145MFS*4
Protein change:
E2145fs
Links:
dbSNP: rs786202264
NCBI 1000 Genomes Browser:
rs786202264
Molecular consequence:
  • NM_000051.4:c.6433_6445del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.6433_6445del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-10978_641-10966del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-10978_*39-10966del - intron variant - [Sequence Ontology: SO:0001627]
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; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000215686Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Jul 22, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000215686.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.6433_6445del13 pathogenic mutation, located in coding exon 43 of the ATM gene, results from a deletion of 13 nucleotides between nucleotide positions 6433 and 6445, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: Nov 3, 2024