U.S. flag

An official website of the United States government

NM_000051.4(ATM):c.2021A>G (p.His674Arg) AND Bilateral breast carcinoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 25, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000181010.10

Allele description [Variation Report for NM_000051.4(ATM):c.2021A>G (p.His674Arg)]

NM_000051.4(ATM):c.2021A>G (p.His674Arg)

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.2021A>G (p.His674Arg)
HGVS:
  • NC_000011.10:g.108253936A>G
  • NG_009830.1:g.36105A>G
  • NM_000051.4:c.2021A>GMANE SELECT
  • NM_001351834.2:c.2021A>G
  • NP_000042.3:p.His674Arg
  • NP_000042.3:p.His674Arg
  • NP_001338763.1:p.His674Arg
  • LRG_135t1:c.2021A>G
  • LRG_135:g.36105A>G
  • LRG_135p1:p.His674Arg
  • NC_000011.9:g.108124663A>G
  • NM_000051.3:c.2021A>G
  • p.H674R
Protein change:
H674R
Links:
dbSNP: rs201762714
NCBI 1000 Genomes Browser:
rs201762714
Molecular consequence:
  • NM_000051.4:c.2021A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2021A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bilateral breast carcinoma
Identifiers:
MONDO: MONDO:0003982; MedGen: C0281267

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
SCV000233284Mayo Clinic Health System - Franciscan Health care, Mayo Clinic Health System
no assertion criteria provided
Uncertain significance
(Sep 25, 2014) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Mayo Clinic Health System - Franciscan Health care, Mayo Clinic Health System, SCV000233284.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025