NM_000051.4(ATM):c.7927+16A>C AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 19, 2018
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:: RCV000771934.10

Allele description [Variation Report for NM_000051.4(ATM):c.7927+16A>C]

NM_000051.4(ATM):c.7927+16A>C

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.7927+16A>C

HGVS:

NC_000011.10:g.108332916A>C
NG_009830.1:g.115085A>C
NG_054724.1:g.141917T>G
NM_000051.4:c.7927+16A>CMANE SELECT
NM_001330368.2:c.641-23845T>G
NM_001351110.2:c.*38+2304T>G
NM_001351834.2:c.7927+16A>C
LRG_135t1:c.7927+16A>C
LRG_135:g.115085A>C
NC_000011.9:g.108203643A>C
NM_000051.3:c.7927+16A>C

Links:

dbSNP: rs746438364

NCBI 1000 Genomes Browser:

rs746438364

Molecular consequence:

NM_000051.4:c.7927+16A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330368.2:c.641-23845T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+2304T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001351834.2:c.7927+16A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Cevanes
Cevanes
Structurally-related alkaloids that contain the cevane carbon backbone. Year introduced: 1969

MeSH
Papaverine
Papaverine
An alkaloid found in opium but not closely related to the other opium alkaloids in its structure or pharmacological actions. It is a direct-acting smooth muscle relaxant used ... 

MeSH
Bicuculline
Bicuculline
An isoquinoline alkaloid obtained from Dicentra cucullaria and other plants. It is a competitive antagonist for GABA-A receptors. Year introduced: 1980(1975)

MeSH
Capsaicin
Capsaicin
An alkylamide found in CAPSICUM that acts at TRPV CATION CHANNELS. Year introduced: 1984(1975)

MeSH
Tropanes
Tropanes
N-methyl-8-azabicyclo[3.2.1]octanes best known for the ones found in PLANTS. Year introduced: 1969

MeSH

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
SCV000904740	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 19, 2018)	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

SCV000904740

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 19, 2018)

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

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

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000904740.1

#	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 10, 2024

ClinVar

Relating variation to medicine