NM_001007792.1(NTRK1):c.1223G>A (p.Arg408Gln) AND not specified

Clinical significance:Benign (Last evaluated: Feb 26, 2021)

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:
RCV000432013.3

Allele description [Variation Report for NM_001007792.1(NTRK1):c.1223G>A (p.Arg408Gln)]

NM_001007792.1(NTRK1):c.1223G>A (p.Arg408Gln)

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_001007792.1(NTRK1):c.1223G>A (p.Arg408Gln)
HGVS:
  • NC_000001.11:g.156874985G>A
  • NG_007493.1:g.64236G>A
  • NM_001007792.1:c.1223G>A
  • NM_001012331.1:c.1313G>A
  • NM_002529.3:c.1331G>A
  • NP_001007793.1:p.Arg408Gln
  • NP_001012331.1:p.Arg438Gln
  • NP_002520.2:p.Arg444Gln
  • LRG_261t1:c.1223G>A
  • LRG_261t2:c.1313G>A
  • LRG_261t3:c.1331G>A
  • LRG_261:g.64236G>A
  • LRG_261p1:p.Arg408Gln
  • LRG_261p2:p.Arg438Gln
  • LRG_261p3:p.Arg444Gln
  • NC_000001.10:g.156844777G>A
  • NM_002529.3:c.1331G>A
Protein change:
R408Q
Links:
dbSNP: rs56320207
NCBI 1000 Genomes Browser:
rs56320207
Molecular consequence:
  • NM_001007792.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012331.1:c.1313G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002529.3:c.1331G>A - 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
SCV000513998GeneDxcriteria provided, single submitter
Benign
(Apr 24, 2015)
germlineclinical testing

Citation Link,

SCV001157633ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Apr 26, 2019)
germlineclinical testing

Citation Link,

SCV001879821Athena Diagnostics Inccriteria provided, single submitter
Benign
(Feb 26, 2021)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Rare variants in the neurotrophin signaling pathway implicated in schizophrenia risk.

Kranz TM, Goetz RR, Walsh-Messinger J, Goetz D, Antonius D, Dolgalev I, Heguy A, Seandel M, Malaspina D, Chao MV.

Schizophr Res. 2015 Oct;168(1-2):421-8. doi: 10.1016/j.schres.2015.07.002. Epub 2015 Jul 26.

PubMed [citation]
PMID:
26215504
PMCID:
PMC4591185

Rare missense coding variants in oxytocin receptor (OXTR) in schizophrenia cases are associated with early trauma exposure, cognition and emotional processing.

Veras AB, Getz M, Froemke RC, Nardi AE, Alves GS, Walsh-Messinger J, Chao MV, Kranz TM, Malaspina D.

J Psychiatr Res. 2018 Feb;97:58-64. doi: 10.1016/j.jpsychires.2017.11.011. Epub 2017 Nov 22.

PubMed [citation]
PMID:
29190530
See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000513998.4

#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 ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001157633.1

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

From Athena Diagnostics Inc, SCV001879821.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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