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NM_003977.4(AIP):c.784GAC[1] (p.Asp263del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 29, 2022
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:
RCV002464041.1

Allele description [Variation Report for NM_003977.4(AIP):c.784GAC[1] (p.Asp263del)]

NM_003977.4(AIP):c.784GAC[1] (p.Asp263del)

Gene:
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_003977.4(AIP):c.784GAC[1] (p.Asp263del)
HGVS:
  • NC_000011.10:g.67490452ACG[1]
  • NG_008969.1:g.12419ACG[1]
  • NM_001302959.2:c.607GAC[1]
  • NM_001302960.2:c.779+6_779+8del
  • NM_003977.4:c.784GAC[1]MANE SELECT
  • NP_001289888.1:p.Asp204del
  • NP_003968.3:p.Asp263del
  • LRG_460t1:c.785_787del
  • LRG_460:g.12419ACG[1]
  • NC_000011.9:g.67257923ACG[1]
  • NC_000011.9:g.67257923_67257925del
  • NM_003977.2:c.785_787delACG
Protein change:
D204del
Links:
dbSNP: rs770434824
NCBI 1000 Genomes Browser:
rs770434824
Molecular consequence:
  • NM_001302959.2:c.607GAC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_003977.4:c.784GAC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001302960.2:c.779+6_779+8del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002669299Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Apr 29, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002669299.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.785_787delACG variant (also known as p.D263del) is located in coding exon 5 of the AIP gene. This variant results from an in-frame ACG deletion at nucleotide positions 785 to 787. This results in the in-frame deletion of an aspartic acid at codon 263. However, this change occurs in the last base pair of coding exon 5, which makes it likely to have some effect on normal mRNA splicing. RNA studies have demonstrated that this alteration results in a transcript predicted to lead to a protein with an in-frame deletion of 1 amino acid; however, the exact functional impact of the deleted amino acid is unknown at this time (Ambry internal data). This nucleotide position is well conserved in available vertebrate species. This amino acid position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024