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NM_000051.4(ATM):c.7294A>G (p.Ile2432Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 2023
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:
RCV001026235.11

Allele description [Variation Report for NM_000051.4(ATM):c.7294A>G (p.Ile2432Val)]

NM_000051.4(ATM):c.7294A>G (p.Ile2432Val)

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.7294A>G (p.Ile2432Val)
HGVS:
  • NC_000011.10:g.108329225A>G
  • NG_009830.1:g.111394A>G
  • NG_054724.1:g.145608T>C
  • NM_000051.4:c.7294A>GMANE SELECT
  • NM_001330368.2:c.641-20154T>C
  • NM_001351110.2:c.*38+5995T>C
  • NM_001351834.2:c.7294A>G
  • NP_000042.3:p.Ile2432Val
  • NP_000042.3:p.Ile2432Val
  • NP_001338763.1:p.Ile2432Val
  • LRG_135t1:c.7294A>G
  • LRG_135:g.111394A>G
  • LRG_135p1:p.Ile2432Val
  • NC_000011.9:g.108199952A>G
  • NC_000011.9:g.108199952A>G
  • NM_000051.3:c.7294A>G
Protein change:
I2432V
Links:
dbSNP: rs587781838
NCBI 1000 Genomes Browser:
rs587781838
Molecular consequence:
  • NM_001330368.2:c.641-20154T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+5995T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.7294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.7294A>G - 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
SCV001188577Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 26, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Decker B, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Ahmed S, Baynes C, Conroy DM, Brown J, Luben R, Ostrander EA, Pharoah PD, Dunning AM, Easton DF.

J Med Genet. 2017 Nov;54(11):732-741. doi: 10.1136/jmedgenet-2017-104588. Epub 2017 Aug 4.

PubMed [citation]
PMID:
28779002
PMCID:
PMC5740532

Details of each submission

From Ambry Genetics, SCV001188577.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.I2432V variant (also known as c.7294A>G), located in coding exon 48 of the ATM gene, results from an A to G substitution at nucleotide position 7294. The isoleucine at codon 2432 is replaced by valine, an amino acid with highly similar properties. This alteration was identified in 1 of 13087 breast cancer cases and 0 of 5488 control individuals in the UK (Decker B et al. J Med Genet, 2017 Nov;54:732-741). 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 10, 2024