chr16-90022715-T-G

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The NM_001481.3(GAS8):​c.-7T>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00776 in 1,417,528 control chromosomes in the GnomAD database, including 555 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.037 ( 329 hom., cov: 33)
Exomes 𝑓: 0.0043 ( 226 hom. )

Consequence

GAS8
NM_001481.3 5_prime_UTR

Scores

2

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: -0.338
Variant links:
Genes affected
GAS8 (HGNC:4166): (growth arrest specific 8) This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -20 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BP6
Variant 16-90022715-T-G is Benign according to our data. Variant chr16-90022715-T-G is described in ClinVar as [Benign]. Clinvar id is 1236662.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.121 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
GAS8NM_001481.3 linkuse as main transcriptc.-7T>G 5_prime_UTR_variant 1/11 ENST00000268699.9

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
GAS8ENST00000268699.9 linkuse as main transcriptc.-7T>G 5_prime_UTR_variant 1/111 NM_001481.3 P4O95995-1

Frequencies

GnomAD3 genomes
AF:
0.0366
AC:
5563
AN:
151912
Hom.:
329
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.124
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.0160
Gnomad ASJ
AF:
0.00289
Gnomad EAS
AF:
0.000387
Gnomad SAS
AF:
0.00498
Gnomad FIN
AF:
0.0000948
Gnomad MID
AF:
0.00318
Gnomad NFE
AF:
0.00135
Gnomad OTH
AF:
0.0187
GnomAD3 exomes
AF:
0.00489
AC:
329
AN:
67332
Hom.:
6
AF XY:
0.00462
AC XY:
179
AN XY:
38758
show subpopulations
Gnomad AFR exome
AF:
0.0808
Gnomad AMR exome
AF:
0.00668
Gnomad ASJ exome
AF:
0.00219
Gnomad EAS exome
AF:
0.00181
Gnomad SAS exome
AF:
0.00515
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.000950
Gnomad OTH exome
AF:
0.00444
GnomAD4 exome
AF:
0.00429
AC:
5432
AN:
1265500
Hom.:
226
Cov.:
31
AF XY:
0.00411
AC XY:
2542
AN XY:
618122
show subpopulations
Gnomad4 AFR exome
AF:
0.122
Gnomad4 AMR exome
AF:
0.00833
Gnomad4 ASJ exome
AF:
0.00246
Gnomad4 EAS exome
AF:
0.000105
Gnomad4 SAS exome
AF:
0.00566
Gnomad4 FIN exome
AF:
0.000227
Gnomad4 NFE exome
AF:
0.00109
Gnomad4 OTH exome
AF:
0.00932
GnomAD4 genome
AF:
0.0366
AC:
5568
AN:
152028
Hom.:
329
Cov.:
33
AF XY:
0.0353
AC XY:
2622
AN XY:
74332
show subpopulations
Gnomad4 AFR
AF:
0.124
Gnomad4 AMR
AF:
0.0160
Gnomad4 ASJ
AF:
0.00289
Gnomad4 EAS
AF:
0.000388
Gnomad4 SAS
AF:
0.00499
Gnomad4 FIN
AF:
0.0000948
Gnomad4 NFE
AF:
0.00135
Gnomad4 OTH
AF:
0.0185
Alfa
AF:
0.00181
Hom.:
4
Bravo
AF:
0.0401
Asia WGS
AF:
0.00982
AC:
34
AN:
3478

ClinVar

Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link

Submissions by phenotype

Primary ciliary dyskinesia 33 Benign:1
Benign, criteria provided, single submitterclinical testingARUP Laboratories, Molecular Genetics and Genomics, ARUP LaboratoriesNov 22, 2023- -
not provided Benign:1
Benign, criteria provided, single submitterclinical testingGeneDxDec 31, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.90
CADD
Benign
0.99
DANN
Benign
0.49

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: rs80287915; hg19: chr16-90089123; API