NM_005591.4(MRE11):c.2070+14A>C AND Ataxia-telangiectasia-like disorder 1

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 10, 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:: RCV000409860.5

Allele description [Variation Report for NM_005591.4(MRE11):c.2070+14A>C]

NM_005591.4(MRE11):c.2070+14A>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

Preferred name:

NM_005591.4(MRE11):c.2070+14A>C

HGVS:

NC_000011.10:g.94429897T>G
NG_007261.1:g.68978A>C
NM_001330347.2:c.2067+14A>C
NM_005590.4:c.1986+14A>C
NM_005591.4:c.2070+14A>CMANE SELECT
LRG_85t1:c.2070+14A>C
LRG_85:g.68978A>C
NC_000011.9:g.94163063T>G
NM_001330347.1:c.2067+14A>C
NM_005591.3:c.2070+14A>C

Links:

dbSNP: rs369127675

NCBI 1000 Genomes Browser:

rs369127675

Molecular consequence:

NM_001330347.2:c.2067+14A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_005590.4:c.1986+14A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_005591.4:c.2070+14A>C - 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
SCV000489724	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Nov 10, 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

SCV000489724

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely benign
(Nov 10, 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, SCV000489724.2

#	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: Feb 28, 2024

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