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NM_003977.4(AIP):c.944A>C (p.Gln315Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 29, 2020
Accession:
VCV000305734.6
Variation ID:
305734
Description:
single nucleotide variant
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NM_003977.4(AIP):c.944A>C (p.Gln315Pro)

Allele ID
314892
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67490944 (GRCh38) GRCh38 UCSC
11: 67258415 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_460:g.12911A>C
LRG_460t1:c.944A>C
NC_000011.10:g.67490944A>C
... more HGVS
Protein change
Q315P, Q256P
Other names
-
Canonical SPDI
NC_000011.10:67490943:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA10631378
dbSNP: rs886048585
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000359339.2
Uncertain significance 1 criteria provided, single submitter Jul 27, 2020 RCV001019362.2
Uncertain significance 1 criteria provided, single submitter Oct 29, 2020 RCV001229408.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AIP - - GRCh38
GRCh37
378 395

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Somatotroph adenoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000373589.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jul 27, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001180710.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.Q315P variant (also known as c.944A>C), located in coding exon 6 of the AIP gene, results from an A to C substitution at nucleotide … (more)
Uncertain significance
(Oct 29, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001401853.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with proline at codon 315 of the AIP protein (p.Gln315Pro). The glutamine residue is moderately conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs886048585...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021