rs200146786

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_000618.5(IGF1):​c.*5716_*5718delAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000847 in 377,684 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.000021 ( 0 hom., cov: 31)
Exomes 𝑓: 0.00012 ( 0 hom. )

Consequence

IGF1
NM_000618.5 3_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.161
Variant links:
Genes affected
IGF1 (HGNC:5464): (insulin like growth factor 1) The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
HELLPAR (HGNC:43984): (HELLP associated long non-coding RNA)
LINC02456 (HGNC:53389): (long intergenic non-protein coding RNA 2456)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
IGF1NM_000618.5 linkc.*5716_*5718delAAA 3_prime_UTR_variant Exon 4 of 4 ENST00000337514.11 NP_000609.1 P05019-2Q5U743Q59GC5

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
IGF1ENST00000337514 linkc.*5716_*5718delAAA 3_prime_UTR_variant Exon 4 of 4 1 NM_000618.5 ENSP00000337612.7 P05019-2
HELLPARENST00000626826.1 linkn.199215_199217delTTT non_coding_transcript_exon_variant Exon 1 of 1 6
LINC02456ENST00000635615.1 linkn.450-26272_450-26270delTTT intron_variant Intron 4 of 5 5
LINC02456ENST00000704346.1 linkn.1067-26272_1067-26270delTTT intron_variant Intron 9 of 10

Frequencies

GnomAD3 genomes
AF:
0.0000208
AC:
3
AN:
144206
Hom.:
0
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.0000254
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.000112
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000153
Gnomad OTH
AF:
0.00
GnomAD4 exome
AF:
0.000124
AC:
29
AN:
233478
Hom.:
0
AF XY:
0.000127
AC XY:
15
AN XY:
118402
show subpopulations
Gnomad4 AFR exome
AF:
0.000294
Gnomad4 AMR exome
AF:
0.000141
Gnomad4 ASJ exome
AF:
0.000228
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.000706
Gnomad4 FIN exome
AF:
0.000308
Gnomad4 NFE exome
AF:
0.000107
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
AF:
0.0000208
AC:
3
AN:
144206
Hom.:
0
Cov.:
31
AF XY:
0.0000143
AC XY:
1
AN XY:
70096
show subpopulations
Gnomad4 AFR
AF:
0.0000254
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.000112
Gnomad4 NFE
AF:
0.0000153
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

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: rs200146786; hg19: chr12-102790566; API