chr5-91376678-T-C

Variant summary

Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1

The NM_020801.4(ARRDC3):ā€‹c.453A>Gā€‹(p.Lys151=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0029 in 1,613,622 control chromosomes in the GnomAD database, including 108 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā˜…).

Frequency

Genomes: š‘“ 0.015 ( 56 hom., cov: 33)
Exomes š‘“: 0.0016 ( 52 hom. )

Consequence

ARRDC3
NM_020801.4 synonymous

Scores

2

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 3.28
Variant links:
Genes affected
ARRDC3 (HGNC:29263): (arrestin domain containing 3) This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -15 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.47).
BP6
Variant 5-91376678-T-C is Benign according to our data. Variant chr5-91376678-T-C is described in ClinVar as [Benign]. Clinvar id is 768019.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=3.28 with no splicing effect.
BA1
GnomAdExome4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0508 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
ARRDC3NM_020801.4 linkuse as main transcriptc.453A>G p.Lys151= synonymous_variant 3/8 ENST00000265138.4 NP_065852.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ARRDC3ENST00000265138.4 linkuse as main transcriptc.453A>G p.Lys151= synonymous_variant 3/81 NM_020801.4 ENSP00000265138 P1

Frequencies

GnomAD3 genomes
AF:
0.0150
AC:
2286
AN:
152218
Hom.:
55
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0513
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00654
Gnomad ASJ
AF:
0.00374
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.000294
Gnomad OTH
AF:
0.0124
GnomAD3 exomes
AF:
0.00385
AC:
968
AN:
251372
Hom.:
23
AF XY:
0.00282
AC XY:
383
AN XY:
135864
show subpopulations
Gnomad AFR exome
AF:
0.0509
Gnomad AMR exome
AF:
0.00171
Gnomad ASJ exome
AF:
0.00328
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.0000980
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.000308
Gnomad OTH exome
AF:
0.00196
GnomAD4 exome
AF:
0.00163
AC:
2384
AN:
1461286
Hom.:
52
Cov.:
30
AF XY:
0.00142
AC XY:
1029
AN XY:
726962
show subpopulations
Gnomad4 AFR exome
AF:
0.0528
Gnomad4 AMR exome
AF:
0.00208
Gnomad4 ASJ exome
AF:
0.00333
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.000151
Gnomad4 FIN exome
AF:
0.0000187
Gnomad4 NFE exome
AF:
0.000166
Gnomad4 OTH exome
AF:
0.00376
GnomAD4 genome
AF:
0.0150
AC:
2288
AN:
152336
Hom.:
56
Cov.:
33
AF XY:
0.0142
AC XY:
1058
AN XY:
74492
show subpopulations
Gnomad4 AFR
AF:
0.0512
Gnomad4 AMR
AF:
0.00653
Gnomad4 ASJ
AF:
0.00374
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.000294
Gnomad4 OTH
AF:
0.0123
Alfa
AF:
0.00680
Hom.:
13
Bravo
AF:
0.0168
Asia WGS
AF:
0.00202
AC:
8
AN:
3476
EpiCase
AF:
0.000273
EpiControl
AF:
0.000356

ClinVar

Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Benign, criteria provided, single submitterclinical testingLabcorp Genetics (formerly Invitae), LabcorpAug 16, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.47
CADD
Benign
11
DANN
Benign
0.83

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: rs34152201; hg19: chr5-90672495; API