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NM_003977.4(AIP):c.804C>T (p.Tyr268=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 13, 2018
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:
RCV001027105.3

Allele description [Variation Report for NM_003977.4(AIP):c.804C>T (p.Tyr268=)]

NM_003977.4(AIP):c.804C>T (p.Tyr268=)

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.804C>T (p.Tyr268=)
HGVS:
  • NC_000011.10:g.67490804C>T
  • NG_008969.1:g.12771C>T
  • NM_001302959.2:c.627C>T
  • NM_001302960.2:c.796C>T
  • NM_003977.4:c.804C>TMANE SELECT
  • NP_001289888.1:p.Tyr209=
  • NP_001289889.1:p.Leu266Phe
  • NP_003968.3:p.Tyr268=
  • LRG_460t1:c.804C>T
  • LRG_460:g.12771C>T
  • NC_000011.9:g.67258275C>T
  • NC_000011.9:g.67258275C>T
  • NM_003977.2:c.804C>T
Protein change:
L266F
Links:
dbSNP: rs121908356
NCBI 1000 Genomes Browser:
rs121908356
Molecular consequence:
  • NM_001302960.2:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302959.2:c.627C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003977.4:c.804C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001189611Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 13, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV001189611.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024