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NM_173039.3(AQP11):c.780G>T (p.Trp260Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 26, 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:
RCV001728136.4

Allele description [Variation Report for NM_173039.3(AQP11):c.780G>T (p.Trp260Cys)]

NM_173039.3(AQP11):c.780G>T (p.Trp260Cys)

Gene:
AQP11:aquaporin 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.1
Genomic location:
Preferred name:
NM_173039.3(AQP11):c.780G>T (p.Trp260Cys)
HGVS:
  • NC_000011.10:g.77609341G>T
  • NM_001363477.2:c.663G>T
  • NM_173039.3:c.780G>TMANE SELECT
  • NP_001350406.1:p.Trp221Cys
  • NP_766627.1:p.Trp260Cys
  • NC_000011.9:g.77320386G>T
Protein change:
W221C
Links:
dbSNP: rs774337087
NCBI 1000 Genomes Browser:
rs774337087
Molecular consequence:
  • NM_001363477.2:c.663G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173039.3:c.780G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001976581Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Nov 26, 2018) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001976581.1

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

Description

The AQP11 c.780G>T (p.Trp260Cys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found through this search. This variant is reported a frequency of 0.000063 in the European (Non-Finnish) population of the Genome Aggregation Database. Based on the available evidence, the p.Trp260Cys variant is classified as a variant of uncertain significance.

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

Last Updated: Dec 24, 2023