1-28237741-A-G

Variant summary

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

The NM_178191.3(ATP5IF1):​c.*1285A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.357 in 1,612,382 control chromosomes in the GnomAD database, including 109,955 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 0.43 ( 16370 hom., cov: 32)
Exomes 𝑓: 0.35 ( 93585 hom. )

Consequence

ATP5IF1
NM_178191.3 3_prime_UTR

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.300
Variant links:
Genes affected
ATP5IF1 (HGNC:871): (ATP synthase inhibitory factor subunit 1) Enables several functions, including ATPase binding activity; angiostatin binding activity; and mitochondrial proton-transporting ATP synthase complex binding activity. Involved in several processes, including mitochondrial depolarization; negative regulation of ATPase activity; and regulation of protein targeting to mitochondrion. Located in cell surface and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

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=-0.88).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.674 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
ATP5IF1NM_016311.5 linkc.180-96A>G intron_variant Intron 2 of 2 ENST00000335514.10 NP_057395.1 Q9UII2-1
ATP5IF1NM_178191.3 linkc.*1285A>G 3_prime_UTR_variant Exon 2 of 2 NP_835498.1 Q9UII2-3
ATP5IF1NM_178190.3 linkc.180-20A>G intron_variant Intron 2 of 2 NP_835497.1 Q9UII2-2

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ATP5IF1ENST00000465645.1 linkc.*1285A>G 3_prime_UTR_variant Exon 2 of 2 1 ENSP00000437337.1 Q9UII2-3
ATP5IF1ENST00000335514.10 linkc.180-96A>G intron_variant Intron 2 of 2 1 NM_016311.5 ENSP00000335203.5 Q9UII2-1
ATP5IF1ENST00000468425.2 linkc.179+1289A>G intron_variant Intron 2 of 2 2 ENSP00000435341.1 A0A0B4J230
ATP5IF1ENST00000497986.5 linkc.180-20A>G intron_variant Intron 2 of 2 2 ENSP00000435579.1 Q9UII2-2

Frequencies

GnomAD3 genomes
AF:
0.434
AC:
65914
AN:
152000
Hom.:
16340
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.681
Gnomad AMI
AF:
0.481
Gnomad AMR
AF:
0.343
Gnomad ASJ
AF:
0.404
Gnomad EAS
AF:
0.0993
Gnomad SAS
AF:
0.241
Gnomad FIN
AF:
0.332
Gnomad MID
AF:
0.424
Gnomad NFE
AF:
0.360
Gnomad OTH
AF:
0.421
GnomAD3 exomes
AF:
0.335
AC:
83219
AN:
248536
Hom.:
15749
AF XY:
0.330
AC XY:
44399
AN XY:
134462
show subpopulations
Gnomad AFR exome
AF:
0.688
Gnomad AMR exome
AF:
0.266
Gnomad ASJ exome
AF:
0.395
Gnomad EAS exome
AF:
0.0985
Gnomad SAS exome
AF:
0.256
Gnomad FIN exome
AF:
0.329
Gnomad NFE exome
AF:
0.360
Gnomad OTH exome
AF:
0.353
GnomAD4 exome
AF:
0.349
AC:
509634
AN:
1460264
Hom.:
93585
Cov.:
37
AF XY:
0.347
AC XY:
251862
AN XY:
726340
show subpopulations
Gnomad4 AFR exome
AF:
0.697
Gnomad4 AMR exome
AF:
0.274
Gnomad4 ASJ exome
AF:
0.399
Gnomad4 EAS exome
AF:
0.0957
Gnomad4 SAS exome
AF:
0.262
Gnomad4 FIN exome
AF:
0.329
Gnomad4 NFE exome
AF:
0.356
Gnomad4 OTH exome
AF:
0.362
GnomAD4 genome
AF:
0.434
AC:
66004
AN:
152118
Hom.:
16370
Cov.:
32
AF XY:
0.427
AC XY:
31728
AN XY:
74360
show subpopulations
Gnomad4 AFR
AF:
0.681
Gnomad4 AMR
AF:
0.343
Gnomad4 ASJ
AF:
0.404
Gnomad4 EAS
AF:
0.0993
Gnomad4 SAS
AF:
0.242
Gnomad4 FIN
AF:
0.332
Gnomad4 NFE
AF:
0.360
Gnomad4 OTH
AF:
0.419
Alfa
AF:
0.365
Hom.:
21860
Bravo
AF:
0.446
Asia WGS
AF:
0.229
AC:
797
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.88
CADD
Benign
5.4
DANN
Benign
0.70

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: rs8559; hg19: chr1-28564252; COSMIC: COSV55281415; COSMIC: COSV55281415; API