NM_000051.4(ATM):c.4451del (p.Met1484fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000565901.1

Allele description [Variation Report for NM_000051.4(ATM):c.4451del (p.Met1484fs)]

NM_000051.4(ATM):c.4451del (p.Met1484fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.4451del (p.Met1484fs)
HGVS:
  • NC_000011.10:g.108292633del
  • NG_009830.1:g.74802del
  • NM_000051.4:c.4451delMANE SELECT
  • NM_001351834.2:c.4451del
  • NP_000042.3:p.Met1484fs
  • NP_001338763.1:p.Met1484fs
  • LRG_135:g.74802del
  • NC_000011.9:g.108163360del
  • NM_000051.3:c.4451delT
Protein change:
M1484fs
Links:
dbSNP: rs1555099760
NCBI 1000 Genomes Browser:
rs1555099760
Molecular consequence:
  • NM_000051.4:c.4451del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.4451del - frameshift variant - [Sequence Ontology: SO:0001589]
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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000665639Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jan 30, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000665639.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.4451delT pathogenic mutation, located in coding exon 29 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4451, causing a translational frameshift with a predicted alternate stop codon (p.M1484Rfs*15). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 25, 2021

Support Center