U.S. flag

An official website of the United States government

NM_020458.4(TTC7A):c.518-120del AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 9, 2018
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:
RCV001636559.3

Allele description [Variation Report for NM_020458.4(TTC7A):c.518-120del]

NM_020458.4(TTC7A):c.518-120del

Genes:
LOC126806211:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:47201305-47202504 [Gene]
TTC7A:tetratricopeptide repeat domain 7A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_020458.4(TTC7A):c.518-120del
HGVS:
  • NC_000002.12:g.46974853del
  • NG_034143.2:g.63725del
  • NM_001288951.2:c.518-120del
  • NM_001288953.2:c.416-120del
  • NM_001288955.2:c.-387-120del
  • NM_020458.4:c.518-120delMANE SELECT
  • LRG_1323t1:c.518-120del
  • LRG_1323:g.63725del
  • NC_000002.11:g.47201992del
Links:
dbSNP: rs67758600
NCBI 1000 Genomes Browser:
rs67758600
Molecular consequence:
  • NM_001288951.2:c.518-120del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288953.2:c.416-120del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288955.2:c.-387-120del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020458.4:c.518-120del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001852580GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Jul 9, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001852580.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024