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NM_000051.4(ATM):c.6757A>C (p.Lys2253Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 10, 2019
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:
RCV001025616.11

Allele description [Variation Report for NM_000051.4(ATM):c.6757A>C (p.Lys2253Gln)]

NM_000051.4(ATM):c.6757A>C (p.Lys2253Gln)

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.6757A>C (p.Lys2253Gln)
HGVS:
  • NC_000011.10:g.108325494A>C
  • NG_009830.1:g.107663A>C
  • NG_054724.1:g.149339T>G
  • NM_000051.4:c.6757A>CMANE SELECT
  • NM_001330368.2:c.641-16423T>G
  • NM_001351110.2:c.*38+9726T>G
  • NM_001351834.2:c.6757A>C
  • NP_000042.3:p.Lys2253Gln
  • NP_000042.3:p.Lys2253Gln
  • NP_001338763.1:p.Lys2253Gln
  • LRG_135t1:c.6757A>C
  • LRG_135:g.107663A>C
  • LRG_135p1:p.Lys2253Gln
  • NC_000011.9:g.108196221A>C
  • NM_000051.3:c.6757A>C
Protein change:
K2253Q
Links:
dbSNP: rs863224578
NCBI 1000 Genomes Browser:
rs863224578
Molecular consequence:
  • NM_001330368.2:c.641-16423T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+9726T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.6757A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.6757A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001187841Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 10, 2019) 		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, SCV001187841.4

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

Description

The p.K2253Q variant (also known as c.6757A>C), located in coding exon 45 of the ATM gene, results from an A to C substitution at nucleotide position 6757. The lysine at codon 2253 is replaced by glutamine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 3, 2024