NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Oct 23, 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:: RCV001795159.15

Allele description [Variation Report for NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)]

NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)

Other names:

p.L1420F:CTT>TTT; NP_000042.3:p.Leu1420Phe

HGVS:

NC_000011.10:g.108289623C>T
NG_009830.1:g.71792C>T
NM_000051.4:c.4258C>TMANE SELECT
NM_001351834.2:c.4258C>T
NP_000042.3:p.Leu1420Phe
NP_000042.3:p.Leu1420Phe
NP_001338763.1:p.Leu1420Phe
LRG_135t1:c.4258C>T
LRG_135:g.71792C>T
LRG_135p1:p.Leu1420Phe
NC_000011.9:g.108160350C>T
NM_000051.3:c.4258C>T
Q13315:p.Leu1420Phe
p.L1420F

Protein change:

L1420F

Links:

UniProtKB: Q13315#VAR_010822; dbSNP: rs1800058

NCBI 1000 Genomes Browser:

rs1800058

Molecular consequence:

NM_000051.4:c.4258C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.4258C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000602559	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Oct 23, 2023)	germline	clinical testing	Citation Link,
SCV002036844	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000602559

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Oct 23, 2023)

germline

clinical testing

Citation Link,

SCV002036844

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Likely benign

germline

clinical testing

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
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, SCV000602559.6

#	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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002036844.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 29, 2024

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