NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) AND Breast and/or ovarian cancer

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 11, 2020
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:: RCV001270929.11

Allele description [Variation Report for NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)]

NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)

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.5932G>T (p.Glu1978Ter)

Other names:

p.E1978*:GAA>TAA

HGVS:

NC_000011.10:g.108312424G>T
NG_009830.1:g.94593G>T
NG_054724.1:g.162409C>A
NM_000051.4:c.5932G>TMANE SELECT
NM_001330368.2:c.641-3353C>A
NM_001351110.2:c.*39-3353C>A
NM_001351834.2:c.5932G>T
NP_000042.3:p.Glu1978Ter
NP_000042.3:p.Glu1978Ter
NP_001338763.1:p.Glu1978Ter
LRG_135t1:c.5932G>T
LRG_135:g.94593G>T
LRG_135p1:p.Glu1978Ter
NC_000011.9:g.108183151G>T
NM_000051.3:c.5932G>T
p.E1978*
p.Glu1978Stop

Protein change:

E1978*

Links:

dbSNP: rs587779852

NCBI 1000 Genomes Browser:

rs587779852

Molecular consequence:

NM_001330368.2:c.641-3353C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*39-3353C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000051.4:c.5932G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351834.2:c.5932G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

Recent activity

Clear Turn Off Turn On

Pathogen: clinical or host-associated sample from Streptococcus agalactiae
Pathogen: clinical or host-associated sample from Streptococcus agalactiae

biosample
Streptococcus agalactiae strain CH63, whole genome shotgun sequencing project
Streptococcus agalactiae strain CH63, whole genome shotgun sequencing project
gi|1512265612|gb|QYZR00000000.1|QYZ 0000

Nucleotide
Appendix D: Guidelines for citation retrieval - Diffusion and Dissemination of E...
Appendix D: Guidelines for citation retrieval - Diffusion and Dissemination of Evidence-based Cancer Control Interventions

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001451733	CZECANCA consortium	no assertion criteria provided	Pathogenic (Jun 11, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002042692	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 11, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001451733

CZECANCA consortium

no assertion criteria provided

Pathogenic
(Jun 11, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002042692

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 11, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Slavic	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]

PMID:: 32295079
PMCID:: PMC7226062

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From CZECANCA consortium, SCV001451733.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Slavic	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002042692.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine