NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 1, 2019
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:: RCV001030602.10

Allele description [Variation Report for NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)]

NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)

Genes:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)

Other names:

7883del5

HGVS:

NC_000011.10:g.108332854TATTA[1]
NG_009830.1:g.115023TATTA[1]
NG_054724.1:g.141973TATAA[1]
NM_000051.4:c.7886_7890delMANE SELECT
NM_001330368.2:c.641-23784_641-23780del
NM_001351110.2:c.*38+2365_*38+2369del
NM_001351834.2:c.7886_7890del
NP_000042.3:p.Ile2629Serfs
NP_000042.3:p.Ile2629fs
NP_001338763.1:p.Ile2629fs
LRG_135t1:c.7881_7885TATTA[1]
LRG_135:g.115023TATTA[1]
LRG_135p1:p.Ile2629Serfs
NC_000011.9:g.108203578_108203582del
NC_000011.9:g.108203581TATTA[1]
NM_000051.3:c.7881_7885TATTA[1]
NM_000051.3:c.7883_7887delTTATA
NM_000051.3:c.7886_7890del
NM_000051.3:c.7886_7890del
NM_000051.3:c.7886_7890delTATTA
NP_000042.3:p.Ile2629SerfsTer25
c.7883_7887del5

Protein change:

I2629fs

Links:

OMIM: 607585.0015; dbSNP: rs1450394308

NCBI 1000 Genomes Browser:

rs1450394308

Molecular consequence:

NM_000051.4:c.7886_7890del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.7886_7890del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330368.2:c.641-23784_641-23780del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+2365_*38+2369del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Clear Turn Off Turn On

Helotiales sp. osu_ktma_12_2e internal transcribed spacer 1, partial sequence; 5...
Helotiales sp. osu_ktma_12_2e internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|669296765|gb|KF428714.1|

Nucleotide
Phialocephala sp. pineroot_b27_mb404 internal transcribed spacer 1, partial sequ...
Phialocephala sp. pineroot_b27_mb404 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|669296768|gb|KF428717.1|

Nucleotide
Fusarium sp. osu_ktma_12_2a1 internal transcribed spacer 1, partial sequence; 5....
Fusarium sp. osu_ktma_12_2a1 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|669296760|gb|KF428709.1|

Nucleotide

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
SCV001193487	Cancer Genomics Group, Japanese Foundation For Cancer Research	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 1, 2019)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 32566746

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001193487

Cancer Genomics Group, Japanese Foundation For Cancer Research

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 1, 2019)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

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

Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, et al.

NPJ Breast Cancer. 2020;6:25. doi: 10.1038/s41523-020-0163-1.

PubMed [citation]

PMID:: 32566746
PMCID:: PMC7293299

Details of each submission

From Cancer Genomics Group, Japanese Foundation For Cancer Research, SCV001193487.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine