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NM_000051.4(ATM):c.5690del (p.Phe1897fs) AND Familial cancer of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 2024
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:
RCV004030851.1

Allele description [Variation Report for NM_000051.4(ATM):c.5690del (p.Phe1897fs)]

NM_000051.4(ATM):c.5690del (p.Phe1897fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.5690del (p.Phe1897fs)
HGVS:
  • NC_000011.10:g.108307912del
  • NG_009830.1:g.90081del
  • NG_054724.1:g.166925del
  • NM_000051.4:c.5690delMANE SELECT
  • NM_001351834.2:c.5690del
  • NP_000042.3:p.Phe1897fs
  • NP_001338763.1:p.Phe1897fs
  • LRG_135t1:c.5690del
  • LRG_135:g.90081del
  • NC_000011.9:g.108178635del
  • NC_000011.9:g.108178639del
  • NM_000051.3:c.5690delT
Protein change:
F1897fs
Links:
dbSNP: rs1591731851
NCBI 1000 Genomes Browser:
rs1591731851
Molecular consequence:
  • NM_000051.4:c.5690del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.5690del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004931447Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jan 25, 2024) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004931447.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 29, 2024