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NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs) AND Familial cancer of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 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:
RCV004054684.1

Allele description [Variation Report for NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)]

NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Indel
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)
HGVS:
  • NC_000011.10:g.108332766_108332771delinsCC
  • NG_009830.1:g.114935_114940delinsCC
  • NG_054724.1:g.142062_142067delinsGG
  • NM_000051.4:c.7793_7798delinsCCMANE SELECT
  • NM_001330368.2:c.641-23700_641-23695delinsGG
  • NM_001351110.2:c.*38+2449_*38+2454delinsGG
  • NM_001351834.2:c.7793_7798delinsCC
  • NP_000042.3:p.Arg2598Profs
  • NP_000042.3:p.Arg2598fs
  • NP_001338763.1:p.Arg2598fs
  • LRG_135t1:c.7793_7798delGAACAGinsCC
  • LRG_135:g.114935_114940delinsCC
  • LRG_135p1:p.Arg2598Profs
  • NC_000011.9:g.108203493_108203498delinsCC
  • NM_000051.3:c.7793_7798delGAACAGinsCC
Protein change:
R2598fs
Molecular consequence:
  • NM_000051.4:c.7793_7798delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.7793_7798delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-23700_641-23695delinsGG - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+2449_*38+2454delinsGG - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004933841Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Feb 1, 2024) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004933841.1

#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: Nov 10, 2024