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NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 8, 2015
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:
RCV000479472.10

Allele description [Variation Report for NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)]

NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)
HGVS:
  • NC_000011.10:g.108310291_108310297dup
  • NG_009830.1:g.92460_92466dup
  • NG_054724.1:g.164536_164542dup
  • NM_000051.4:c.5894_5900dupMANE SELECT
  • NM_001330368.2:c.641-1226_641-1220dup
  • NM_001351110.2:c.*39-1226_*39-1220dup
  • NM_001351834.2:c.5894_5900dup
  • NP_000042.3:p.Met1967Ilefs
  • NP_000042.3:p.Met1967fs
  • NP_001338763.1:p.Met1967fs
  • LRG_135t1:c.5894_5900dup
  • LRG_135:g.92460_92466dup
  • LRG_135p1:p.Met1967Ilefs
  • NC_000011.9:g.108181017_108181018insAAAGTAT
  • NC_000011.9:g.108181018_108181024dup
  • NM_000051.3:c.5894_5900dup
  • NM_000051.3:c.5894_5900dupAAAGTAT
Protein change:
M1967fs
Links:
dbSNP: rs1555110517
NCBI 1000 Genomes Browser:
rs1555110517
Molecular consequence:
  • NM_000051.4:c.5894_5900dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.5894_5900dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-1226_641-1220dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-1226_*39-1220dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000568109GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Oct 8, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000568109.4

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

Description

This duplication of 7 nucleotides in ATM is denoted c.5894_5900dupAAAGTAT at the cDNA level and p.Met1967IlefsX5 (M1967IfsX5) at the protein level. The normal sequence, with the bases that are duplicated in braces, is AAGA[AAAGTAT]GGAT. The duplication causes a frameshift, which changes a Methionine to an Isoleucine at codon 1967, and creates a premature stop codon at position 5 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 18, 2024