rs4522565

Variant summary

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

The NM_016315.4(GULP1):​c.-172+41444T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.178 in 152,026 control chromosomes in the GnomAD database, including 2,480 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 0.18 ( 2480 hom., cov: 31)

Consequence

GULP1
NM_016315.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.936
Variant links:
Genes affected
GULP1 (HGNC:18649): (GULP PTB domain containing engulfment adaptor 1) The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]
LINC01090 (HGNC:49201): (long intergenic non-protein coding RNA 1090)

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 (SAS) allele frequency at 95% confidence interval = 0.223 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
GULP1NM_016315.4 linkuse as main transcriptc.-172+41444T>C intron_variant ENST00000409830.6 NP_057399.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
GULP1ENST00000409830.6 linkuse as main transcriptc.-172+41444T>C intron_variant 1 NM_016315.4 ENSP00000386732 P1Q9UBP9-1

Frequencies

GnomAD3 genomes
AF:
0.178
AC:
27059
AN:
151906
Hom.:
2476
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.183
Gnomad AMI
AF:
0.241
Gnomad AMR
AF:
0.153
Gnomad ASJ
AF:
0.146
Gnomad EAS
AF:
0.231
Gnomad SAS
AF:
0.235
Gnomad FIN
AF:
0.169
Gnomad MID
AF:
0.222
Gnomad NFE
AF:
0.174
Gnomad OTH
AF:
0.187
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.178
AC:
27097
AN:
152026
Hom.:
2480
Cov.:
31
AF XY:
0.180
AC XY:
13349
AN XY:
74318
show subpopulations
Gnomad4 AFR
AF:
0.183
Gnomad4 AMR
AF:
0.154
Gnomad4 ASJ
AF:
0.146
Gnomad4 EAS
AF:
0.230
Gnomad4 SAS
AF:
0.234
Gnomad4 FIN
AF:
0.169
Gnomad4 NFE
AF:
0.174
Gnomad4 OTH
AF:
0.194
Alfa
AF:
0.173
Hom.:
288
Bravo
AF:
0.175
Asia WGS
AF:
0.242
AC:
839
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
4.0
DANN
Benign
0.82

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: rs4522565; hg19: chr2-189198337; API