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NM_024782.3(NHEJ1):c.707-7A>T AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Sep 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000840974.19

Allele description [Variation Report for NM_024782.3(NHEJ1):c.707-7A>T]

NM_024782.3(NHEJ1):c.707-7A>T

Genes:
LOC126806516:BRD4-independent group 4 enhancer GRCh37_chr2:219941606-219942805 [Gene]
NHEJ1:non-homologous end joining factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_024782.3(NHEJ1):c.707-7A>T
HGVS:
  • NC_000002.12:g.219077371T>A
  • NG_007880.1:g.88495A>T
  • NM_001377498.1:c.707-7A>T
  • NM_001377499.1:c.722-7A>T
  • NM_024782.3:c.707-7A>TMANE SELECT
  • LRG_90t1:c.707-7A>T
  • LRG_90:g.88495A>T
  • NC_000002.11:g.219942093T>A
  • NM_024782.2:c.707-7A>T
Links:
dbSNP: rs150521220
NCBI 1000 Genomes Browser:
rs150521220
Molecular consequence:
  • NM_001377498.1:c.707-7A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377499.1:c.722-7A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024782.3:c.707-7A>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000982927GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Mar 19, 2018) 		germlineclinical testing

Citation Link,

SCV002585860CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Sep 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000982927.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV002585860.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

NHEJ1: BP4, BS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024