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NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Mar 3, 2015
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:
RCV000086210.3

Allele description [Variation Report for NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)]

NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)

Gene:
AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
HGVS:
  • NC_000017.11:g.6425561_6425572del
  • NG_008474.1:g.14638_14649del
  • NM_001033054.3:c.864_875del
  • NM_001033055.3:c.873_884del
  • NM_001285399.3:c.1017_1028del
  • NM_001285400.3:c.987_998del
  • NM_001285401.3:c.981_992del
  • NM_001285402.2:c.936_947del
  • NM_001285403.4:c.*1024_*1035del
  • NM_014336.5:c.1053_1064delMANE SELECT
  • NP_001028226.1:p.Ala289_Pro292del
  • NP_001028227.1:p.Ala292_Pro295del
  • NP_001272328.1:p.Ala340_Pro343del
  • NP_001272329.1:p.Ala330_Pro333del
  • NP_001272330.1:p.Ala328_Pro331del
  • NP_001272331.1:p.Ala313_Pro316del
  • NP_055151.3:p.Ala352_Pro355del
  • NC_000017.10:g.6328871_6328882del
  • NC_000017.10:g.6328881_6328892del
  • NM_014336.3:c.1043_1054delCAGAGCCACCTG
  • NM_014336.3:c.1053_1064del
  • NM_014336.3:c.1053_1064delTGCAGAGCCACC
  • NM_014336.4:c.1053_1064del12
Links:
OMIM: 604392.0004; dbSNP: rs281865195
NCBI 1000 Genomes Browser:
rs281865195
Molecular consequence:
  • NM_001285403.4:c.*1024_*1035del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001033054.3:c.864_875del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001033055.3:c.873_884del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001285399.3:c.1017_1028del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001285400.3:c.987_998del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001285401.3:c.981_992del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001285402.2:c.936_947del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014336.5:c.1053_1064del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000118354Retina International
no classification provided
not providednot providednot provided

SCV001782366GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Retina International, SCV000118354.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From GeneDx, SCV001782366.1

#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: Jul 7, 2024