NM_005591.4(MRE11):c.315-14dup AND Ataxia-telangiectasia-like disorder 1

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 8, 2016
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:: RCV000410959.2

Allele description [Variation Report for NM_005591.4(MRE11):c.315-14dup]

NM_005591.4(MRE11):c.315-14dup

Gene:

MRE11:MRE11 homolog, double strand break repair nuclease [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q21

Genomic location:

Preferred name:

NM_005591.4(MRE11):c.315-14dup

HGVS:

NC_000011.10:g.94479775dup
NG_007261.1:g.19110dup
NM_001330347.2:c.315-14dup
NM_005590.4:c.315-14dup
NM_005591.4:c.315-14dupMANE SELECT
LRG_85t1:c.315-4dup
LRG_85:g.19110dup
NC_000011.9:g.94212930_94212931insA
NC_000011.9:g.94212941dup
NM_005591.3:c.315-4dup
NM_005591.3:c.315-4dupT

Links:

dbSNP: rs35062043

NCBI 1000 Genomes Browser:

rs35062043

Molecular consequence:

NM_001330347.2:c.315-14dup - intron variant - [Sequence Ontology: SO:0001627]
NM_005590.4:c.315-14dup - intron variant - [Sequence Ontology: SO:0001627]
NM_005591.4:c.315-14dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Ataxia-telangiectasia-like disorder 1 (ATLD1)
Identifiers:: MONDO: MONDO:0024557; MedGen: C4012790; Orphanet: 251347; OMIM: 604391

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000488540	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Benign (Jun 8, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000488540

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Benign
(Jun 8, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000488540.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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