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NM_000051.4(ATM):c.8751C>T (p.Gly2917=) AND Familial cancer of breast

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Mar 9, 2022
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV002221552.11

Allele description [Variation Report for NM_000051.4(ATM):c.8751C>T (p.Gly2917=)]

NM_000051.4(ATM):c.8751C>T (p.Gly2917=)

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.8751C>T (p.Gly2917=)
Other names:
NM_000051.3(ATM):c.8751C>T; p.Gly2917=
HGVS:
  • NC_000011.10:g.108353845C>T
  • NG_009830.1:g.136014C>T
  • NG_054724.1:g.120988G>A
  • NM_000051.4:c.8751C>TMANE SELECT
  • NM_001330368.2:c.640+32075G>A
  • NM_001351110.2:c.695-18553G>A
  • NM_001351834.2:c.8751C>T
  • NP_000042.3:p.Gly2917=
  • NP_000042.3:p.Gly2917=
  • NP_001338763.1:p.Gly2917=
  • LRG_135t1:c.8751C>T
  • LRG_135:g.136014C>T
  • LRG_135p1:p.Gly2917=
  • NC_000011.9:g.108224572C>T
  • NC_000011.9:g.108224572C>T
  • NM_000051.3:c.8751C>T
Links:
dbSNP: rs779858366
NCBI 1000 Genomes Browser:
rs779858366
Molecular consequence:
  • NM_001330368.2:c.640+32075G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.695-18553G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.8751C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351834.2:c.8751C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
BREAST CANCER, FAMILIAL; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002499276ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(clingen hbop acmg specifications atm v1-1)
Likely benign
(Mar 9, 2022)
germlinecuration

Citation Link,

SCV005083797Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))
Benign
(Jun 20, 2024)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen, SCV002499276.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The ATM c.8751C>T (p.Gly2917=) variant has a GnomAD (v2.1.1) allele frequency of 0.000%, which is below the ATM PM2 threshold of 0.001% (PM2_Supporting). It is a synonymous variant (BP7). This variant is not predicted to impact splicing in multiple RNA in silico tools (BP4). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria applied, as specified by the HBOP Variant Curation Expert Panel.

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

From Myriad Genetics, Inc., SCV005083797.1

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

Description

This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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

Last Updated: Feb 16, 2025