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NM_000051.4(ATM):c.901G>C (p.Gly301Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 6, 2022
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:
RCV002375368.2

Allele description [Variation Report for NM_000051.4(ATM):c.901G>C (p.Gly301Arg)]

NM_000051.4(ATM):c.901G>C (p.Gly301Arg)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.901G>C (p.Gly301Arg)
HGVS:
  • NC_000011.10:g.108245026G>C
  • NG_009830.1:g.27195G>C
  • NM_000051.4:c.901G>CMANE SELECT
  • NM_001351834.2:c.901G>C
  • NP_000042.3:p.Gly301Arg
  • NP_001338763.1:p.Gly301Arg
  • LRG_135t1:c.901G>C
  • LRG_135:g.27195G>C
  • NC_000011.9:g.108115753G>C
  • NM_000051.3:c.901G>C
Protein change:
G301R
Links:
dbSNP: rs1064797160
NCBI 1000 Genomes Browser:
rs1064797160
Molecular consequence:
  • NM_000051.4:c.901G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.901G>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002686610Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 6, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002686610.2

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

Description

The c.901G>C pathogenic mutation (also known as p.G301R), located in coding exon 6 of the ATM gene, results from a G to C substitution at nucleotide position 901. The amino acid change results in glycine to arginine at codon 301, an amino acid with dissimilar properties. However, this change occurs in the last base pair of coding exon 6, which makes it likely to have some effect on normal mRNA splicing. Another alteration impacting the same nucleotide position (c.901G>A) has been shown to have a similar impact on splicing (Casadei S et al. Proc Natl Acad Sci U S A, 2019 Dec; Ambry internal data). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024