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NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly) AND Carcinoma of colon

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001354458.9

Allele description [Variation Report for NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)]

NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)

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.9169T>G (p.Ter3057Gly)
Other names:
*3057G
HGVS:
  • NC_000011.10:g.108365506T>G
  • NG_009830.1:g.147675T>G
  • NG_054724.1:g.109327A>C
  • NM_000051.4:c.9169T>GMANE SELECT
  • NM_001330368.2:c.640+20414A>C
  • NM_001351110.2:c.694+20414A>C
  • NM_001351834.2:c.9169T>G
  • NP_000042.3:p.Ter3057Gly
  • NP_000042.3:p.Ter3057Gly
  • NP_001338763.1:p.Ter3057Gly
  • LRG_135t1:c.9169T>G
  • LRG_135:g.147675T>G
  • LRG_135p1:p.Ter3057Gly
  • NC_000011.9:g.108236233T>G
  • NM_000051.3:c.9169T>G
Links:
dbSNP: rs2091262473
NCBI 1000 Genomes Browser:
rs2091262473
Molecular consequence:
  • NM_001330368.2:c.640+20414A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.694+20414A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.9169T>G - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001351834.2:c.9169T>G - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Carcinoma of colon (CRC)
Synonyms:
Colonic carcinoma; Colon carcinoma
Identifiers:
MONDO: MONDO:0002032; MedGen: C0699790

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001549080Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001549080.1

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

Description

The ATM p.*3057Glyext*29 variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, or LOVD 3.0 databases. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The c.9169T>G variant occurs in the stop codon of this reading frame and is predicted to extend the ATM protein by 30 residues. The effect of this protein extension on protein function cannot currently be predicted. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: May 12, 2024