U.S. flag

An official website of the United States government

NM_000051.4(ATM):c.3231dup (p.Leu1078fs) AND Familial cancer of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 19, 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:
RCV004022144.1

Allele description [Variation Report for NM_000051.4(ATM):c.3231dup (p.Leu1078fs)]

NM_000051.4(ATM):c.3231dup (p.Leu1078fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)
HGVS:
  • NC_000011.10:g.108272799dup
  • NG_009830.1:g.54968dup
  • NM_000051.4:c.3231dupMANE SELECT
  • NM_001351834.2:c.3231dup
  • NP_000042.3:p.Leu1078fs
  • NP_000042.3:p.Leu1078fs
  • NP_001338763.1:p.Leu1078fs
  • LRG_135t1:c.3231dup
  • LRG_135:g.54968dup
  • LRG_135p1:p.Leu1078fs
  • NC_000011.9:g.108143523_108143524insT
  • NC_000011.9:g.108143526dup
  • NM_000051.3:c.3231dup
  • NM_000051.3:c.3231dupT
Protein change:
L1078fs
Links:
dbSNP: rs1057517097
NCBI 1000 Genomes Browser:
rs1057517097
Molecular consequence:
  • NM_000051.4:c.3231dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.3231dup - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004933360Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jan 19, 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., SCV004933360.1

#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