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NM_003977.4(AIP):c.908G>A (p.Ser303Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 2021
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:
RCV001018824.2

Allele description [Variation Report for NM_003977.4(AIP):c.908G>A (p.Ser303Asn)]

NM_003977.4(AIP):c.908G>A (p.Ser303Asn)

Gene:
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_003977.4(AIP):c.908G>A (p.Ser303Asn)
HGVS:
  • NC_000011.10:g.67490908G>A
  • NG_008969.1:g.12875G>A
  • NM_001302959.2:c.731G>A
  • NM_001302960.2:c.*48G>A
  • NM_003977.4:c.908G>AMANE SELECT
  • NP_001289888.1:p.Ser244Asn
  • NP_003968.3:p.Ser303Asn
  • LRG_460t1:c.908G>A
  • LRG_460:g.12875G>A
  • NC_000011.9:g.67258379G>A
  • NM_003977.2:c.908G>A
  • NM_003977.3:c.908G>A
Protein change:
S244N
Links:
dbSNP: rs1006697477
NCBI 1000 Genomes Browser:
rs1006697477
Molecular consequence:
  • NM_001302960.2:c.*48G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001302959.2:c.731G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003977.4:c.908G>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV001180104Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Dec 17, 2021) 		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, SCV001180104.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.S303N variant (also known as c.908G>A), located in coding exon 6 of the AIP gene, results from a G to A substitution at nucleotide position 908. The serine at codon 303 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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