NM_003977.4(AIP):c.884_889del (p.Asp295_Pro296del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 6, 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:: RCV003684480.2

Allele description [Variation Report for NM_003977.4(AIP):c.884_889del (p.Asp295_Pro296del)]

NM_003977.4(AIP):c.884_889del (p.Asp295_Pro296del)

Gene:

AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_003977.4(AIP):c.884_889del (p.Asp295_Pro296del)

HGVS:

NC_000011.10:g.67490884_67490889del
NG_008969.1:g.12851_12856del
NM_001302959.2:c.707_712del
NM_001302960.2:c.*24_*29del
NM_003977.4:c.884_889delMANE SELECT
NP_001289888.1:p.Asp236_Pro237del
NP_003968.2:p.Asp295_Pro296del
NP_003968.3:p.Asp295_Pro296del
LRG_460t1:c.884_889del
LRG_460:g.12851_12856del
LRG_460p1:p.Asp295_Pro296del
NC_000011.9:g.67258354_67258359del
NC_000011.9:g.67258355_67258360del
NM_003977.2:c.884_889delACCCAG

Molecular consequence:

NM_001302960.2:c.*24_*29del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001302959.2:c.707_712del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003977.4:c.884_889del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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granule-bound starch synthase 1, partial [Capsicum baccatum]
granule-bound starch synthase 1, partial [Capsicum baccatum]
gi|2717325222|gb|WZH62358.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004405871	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 6, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004405871

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 6, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004405871.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with AIP-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.884_889del, results in the deletion of 2 amino acid(s) of the AIP protein (p.Asp295_Pro296del), but otherwise preserves the integrity of the reading frame.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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