NM_000051.4(ATM):c.6387C>A (p.Tyr2129Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 23, 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:: RCV002369133.9

Allele description [Variation Report for NM_000051.4(ATM):c.6387C>A (p.Tyr2129Ter)]

NM_000051.4(ATM):c.6387C>A (p.Tyr2129Ter)

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.6387C>A (p.Tyr2129Ter)

HGVS:

NC_000011.10:g.108319993C>A
NG_009830.1:g.102162C>A
NG_054724.1:g.154840G>T
NM_000051.4:c.6387C>AMANE SELECT
NM_001330368.2:c.641-10922G>T
NM_001351110.2:c.*39-10922G>T
NM_001351834.2:c.6387C>A
NP_000042.3:p.Tyr2129Ter
NP_000042.3:p.Tyr2129Ter
NP_001338763.1:p.Tyr2129Ter
LRG_135t1:c.6387C>A
LRG_135:g.102162C>A
LRG_135p1:p.Tyr2129Ter
NC_000011.9:g.108190720C>A
NM_000051.3:c.6387C>A

Protein change:

Y2129*

Molecular consequence:

NM_001330368.2:c.641-10922G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*39-10922G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000051.4:c.6387C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001351834.2:c.6387C>A - nonsense - [Sequence Ontology: SO:0001587]

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

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
SCV002659106	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002659106

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 23, 2020)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002659106.2

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

Description

The p.Y2129* pathogenic mutation (also known as c.6387C>A), located in coding exon 43 of the ATM gene, results from a C to A substitution at nucleotide position 6387. This changes the amino acid from a tyrosine to a stop codon within coding exon 43. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: Aug 25, 2024

ClinVar

Relating variation to medicine