rs7041260

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_006180.6(NTRK2):​c.359+1194G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0447 in 152,138 control chromosomes in the GnomAD database, including 208 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.045 ( 208 hom., cov: 33)

Consequence

NTRK2
NM_006180.6 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.103
Variant links:
Genes affected
NTRK2 (HGNC:8032): (neurotrophic receptor tyrosine kinase 2) This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0707 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
NTRK2NM_006180.6 linkuse as main transcriptc.359+1194G>C intron_variant ENST00000277120.8

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
NTRK2ENST00000277120.8 linkuse as main transcriptc.359+1194G>C intron_variant 1 NM_006180.6 P3Q16620-4

Frequencies

GnomAD3 genomes
AF:
0.0447
AC:
6797
AN:
152020
Hom.:
208
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0730
Gnomad AMI
AF:
0.122
Gnomad AMR
AF:
0.0532
Gnomad ASJ
AF:
0.0159
Gnomad EAS
AF:
0.00385
Gnomad SAS
AF:
0.0137
Gnomad FIN
AF:
0.0326
Gnomad MID
AF:
0.00949
Gnomad NFE
AF:
0.0338
Gnomad OTH
AF:
0.0321
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0447
AC:
6799
AN:
152138
Hom.:
208
Cov.:
33
AF XY:
0.0444
AC XY:
3301
AN XY:
74392
show subpopulations
Gnomad4 AFR
AF:
0.0729
Gnomad4 AMR
AF:
0.0530
Gnomad4 ASJ
AF:
0.0159
Gnomad4 EAS
AF:
0.00367
Gnomad4 SAS
AF:
0.0141
Gnomad4 FIN
AF:
0.0326
Gnomad4 NFE
AF:
0.0338
Gnomad4 OTH
AF:
0.0317
Alfa
AF:
0.0445
Hom.:
17
Bravo
AF:
0.0490
Asia WGS
AF:
0.0110
AC:
37
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.85
CADD
Benign
7.7
DANN
Benign
0.65

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs7041260; hg19: chr9-87318528; API