NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) AND not specified

Clinical significance:Benign (Last evaluated: Jun 28, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000424500.2

Allele description [Variation Report for NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)]

NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)

Gene:
ANKRD11:ankyrin repeat domain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)
HGVS:
  • NC_000016.10:g.89279755G>A
  • NG_032003.1:g.215807C>T
  • NG_032003.2:g.215807C>T
  • NM_001256182.2:c.6787C>T
  • NM_001256183.2:c.6787C>T
  • NM_013275.6:c.6787C>TMANE SELECT
  • NP_001243111.1:p.Pro2263Ser
  • NP_001243112.1:p.Pro2263Ser
  • NP_037407.4:p.Pro2263Ser
  • NC_000016.9:g.89346163G>A
  • NM_001256182.1:c.6787C>T
  • NM_013275.4:c.6787C>T
  • NM_013275.5:c.6787C>T
Protein change:
P2263S
Links:
dbSNP: rs76793093
NCBI 1000 Genomes Browser:
rs76793093
Molecular consequence:
  • NM_001256182.2:c.6787C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.6787C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.6787C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000518353GeneDxcriteria provided, single submitter
Benign
(Sep 22, 2015)
germlineclinical testing

Citation Link,

SCV000612336Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jun 28, 2017)
germlineclinical testing

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

SCV001979700Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000518353.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Athena Diagnostics Inc, SCV000612336.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001979700.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 21, 2021

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