NM_005732.4(RAD50):c.2113C>T (p.Leu705=) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 10, 2024
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:: RCV004525905.2

Allele description [Variation Report for NM_005732.4(RAD50):c.2113C>T (p.Leu705=)]

NM_005732.4(RAD50):c.2113C>T (p.Leu705=)

Gene:

RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_005732.4(RAD50):c.2113C>T (p.Leu705=)

HGVS:

NC_000005.10:g.132595716C>T
NG_021151.2:g.43740C>T
NM_005732.4:c.2113C>TMANE SELECT
NP_005723.2:p.Leu705=
LRG_312t1:c.2113C>T
LRG_312:g.43740C>T
LRG_312p1:p.Leu705=
NC_000005.9:g.131931408C>T
NG_021151.1:g.43793C>T
NM_005732.3:c.2113C>T

Links:

dbSNP: rs779776271

NCBI 1000 Genomes Browser:

rs779776271

Molecular consequence:

NM_005732.4:c.2113C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Cardamine sp. CZ-2021a internal transcribed spacer 2, partial sequence
Cardamine sp. CZ-2021a internal transcribed spacer 2, partial sequence
gi|2165181950|gb|OL855703.1|

Nucleotide
Cardamine sp. Carlsen 3240 voucher MO:Carlsen3240 photosystem II protein D1 (psb...
Cardamine sp. Carlsen 3240 voucher MO:Carlsen3240 photosystem II protein D1 (psbA) gene, partial cds; psbA-trnH intergenic spacer, complete sequence; and tRNA-His (trnH-GUG) gene, partial sequence; chloroplast
gi|2171552224|gb|OL312138.1|

Nucleotide
Cardamine flexuosa auct. non With. isolate AUS5 internal transcribed spacer 1, 5...
Cardamine flexuosa auct. non With. isolate AUS5 internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence
gi|82502124|gb|DQ268452.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005039916	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Mar 10, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005039916

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Mar 10, 2024)

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005039916.2

#	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: Oct 13, 2024

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