NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 7, 2023
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:: RCV000236151.2

Allele description [Variation Report for NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)]

NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)

Gene:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)

HGVS:

NC_000011.10:g.108287710_108287711del
NG_009830.1:g.69879_69880del
NM_000051.4:c.4104_4105delMANE SELECT
NM_001351834.2:c.4104_4105del
NP_000042.3:p.Ser1369fs
NP_001338763.1:p.Ser1369fs
LRG_135:g.69879_69880del
NC_000011.9:g.108158435_108158436del
NC_000011.9:g.108158437_108158438del
NM_000051.3:c.4104_4105delTT
NM_000051.4:c.4104_4105del

Protein change:

S1369fs

Links:

dbSNP: rs879254189

NCBI 1000 Genomes Browser:

rs879254189

Molecular consequence:

NM_000051.4:c.4104_4105del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.4104_4105del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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PPP1R3B [Vulpes lagopus]
PPP1R3B [Vulpes lagopus]
Gene ID:121489582

Gene
ALG11 [Vulpes lagopus]
ALG11 [Vulpes lagopus]
Gene ID:121477150

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000293755	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293755

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 7, 2023)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000293755.11

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge

#	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: Sep 29, 2024

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