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NM_032217.5(ANKRD17):c.1408C>T (p.Pro470Ser) AND Chopra-Amiel-Gordon syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001787692.1

Allele description [Variation Report for NM_032217.5(ANKRD17):c.1408C>T (p.Pro470Ser)]

NM_032217.5(ANKRD17):c.1408C>T (p.Pro470Ser)

Gene:
ANKRD17:ankyrin repeat domain 17 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q13.3
Genomic location:
Preferred name:
NM_032217.5(ANKRD17):c.1408C>T (p.Pro470Ser)
HGVS:
  • NC_000004.12:g.73148972G>A
  • NM_001286771.3:c.1069C>T
  • NM_015574.2:c.1408C>T
  • NM_032217.5:c.1408C>TMANE SELECT
  • NM_198889.3:c.1408C>T
  • NP_001273700.1:p.Pro357Ser
  • NP_056389.1:p.Pro470Ser
  • NP_115593.3:p.Pro470Ser
  • NP_942592.1:p.Pro470Ser
  • NC_000004.11:g.74014689G>A
  • NM_032217.4:c.1408C>T
Protein change:
P357S
Links:
dbSNP: rs2148855219
NCBI 1000 Genomes Browser:
rs2148855219
Molecular consequence:
  • NM_001286771.3:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015574.2:c.1408C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032217.5:c.1408C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198889.3:c.1408C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Chopra-Amiel-Gordon syndrome (CAGS)
Identifiers:
MONDO: MONDO:0859186; MedGen: C5561975; OMIM: 619504

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002030782GenomeConnect - Brain Gene Registry
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV002030782.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 05-07-2020 by Lab or GTR ID 1006. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR ) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Dec 24, 2023