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NM_002529.4(NTRK1):c.375C>T (p.Asn125=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 11, 2019
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:
RCV002365331.2

Allele description [Variation Report for NM_002529.4(NTRK1):c.375C>T (p.Asn125=)]

NM_002529.4(NTRK1):c.375C>T (p.Asn125=)

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_002529.4(NTRK1):c.375C>T (p.Asn125=)
HGVS:
  • NC_000001.11:g.156866925C>T
  • NG_007493.1:g.56176C>T
  • NM_001007792.1:c.285C>T
  • NM_001012331.2:c.375C>T
  • NM_002529.4:c.375C>TMANE SELECT
  • NP_001007793.1:p.Asn95=
  • NP_001012331.1:p.Asn125=
  • NP_001012331.1:p.Asn125=
  • NP_002520.2:p.Asn125=
  • LRG_261t1:c.285C>T
  • LRG_261t2:c.375C>T
  • LRG_261:g.56176C>T
  • LRG_261p1:p.Asn95=
  • LRG_261p2:p.Asn125=
  • NC_000001.10:g.156836717C>T
  • NM_001012331.1:c.375C>T
Links:
dbSNP: rs757803799
NCBI 1000 Genomes Browser:
rs757803799
Molecular consequence:
  • NM_001007792.1:c.285C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001012331.2:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002529.4:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002625911Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 11, 2019) 		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, SCV002625911.2

#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