NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 16, 2017
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:: RCV000507916.16

Allele description [Variation Report for NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)]

NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)

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.6415_6416del (p.Glu2139fs)

HGVS:

NC_000011.10:g.108320019GA[1]
NG_009830.1:g.102188GA[1]
NG_054724.1:g.154812CT[1]
NM_000051.4:c.6415_6416delMANE SELECT
NM_001330368.2:c.641-10948_641-10947del
NM_001351110.2:c.*39-10948_*39-10947del
NM_001351834.2:c.6415_6416del
NP_000042.3:p.Glu2139Ilefs
NP_000042.3:p.Glu2139fs
NP_001338763.1:p.Glu2139fs
LRG_135t1:c.6413_6414GA[1]
LRG_135:g.102188GA[1]
LRG_135p1:p.Glu2139Ilefs
NC_000011.9:g.108190745_108190746del
NC_000011.9:g.108190746GA[1]
NM_000051.3:c.6413_6414GA[1]
NM_000051.3:c.6415_6416del
NM_000051.3:c.6415_6416del
NM_000051.3:c.6415_6416delGA

Protein change:

E2139fs

Links:

dbSNP: rs863225466

NCBI 1000 Genomes Browser:

rs863225466

Molecular consequence:

NM_000051.4:c.6415_6416del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.6415_6416del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330368.2:c.641-10948_641-10947del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*39-10948_*39-10947del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000602578	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (Mar 16, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000602578

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(Mar 16, 2017)

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602578.1

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

#	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

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