13-95020696-A-G

Variant summary

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

The NM_005845.5(ABCC4):​c.*879T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.416 in 152,108 control chromosomes in the GnomAD database, including 13,866 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 0.42 ( 13862 hom., cov: 32)
Exomes 𝑓: 0.65 ( 4 hom. )

Consequence

ABCC4
NM_005845.5 3_prime_UTR

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.278
Variant links:
Genes affected
ABCC4 (HGNC:55): (ATP binding cassette subfamily C member 4 (PEL blood group)) The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]

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=-0.84).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.478 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
ABCC4NM_005845.5 linkc.*879T>C 3_prime_UTR_variant Exon 31 of 31 ENST00000645237.2 NP_005836.2 O15439-1A8K2Q2
ABCC4NM_001301829.2 linkc.*879T>C 3_prime_UTR_variant Exon 30 of 30 NP_001288758.1 O15439-2A8K2Q2
ABCC4XM_047430034.1 linkc.*879T>C 3_prime_UTR_variant Exon 31 of 31 XP_047285990.1
ABCC4XM_047430035.1 linkc.*879T>C 3_prime_UTR_variant Exon 28 of 28 XP_047285991.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ABCC4ENST00000645237 linkc.*879T>C 3_prime_UTR_variant Exon 31 of 31 NM_005845.5 ENSP00000494609.1 O15439-1

Frequencies

GnomAD3 genomes
AF:
0.417
AC:
63299
AN:
151970
Hom.:
13861
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.289
Gnomad AMI
AF:
0.482
Gnomad AMR
AF:
0.369
Gnomad ASJ
AF:
0.436
Gnomad EAS
AF:
0.494
Gnomad SAS
AF:
0.479
Gnomad FIN
AF:
0.603
Gnomad MID
AF:
0.415
Gnomad NFE
AF:
0.464
Gnomad OTH
AF:
0.407
GnomAD4 exome
AF:
0.650
AC:
13
AN:
20
Hom.:
4
Cov.:
0
AF XY:
0.571
AC XY:
8
AN XY:
14
show subpopulations
Gnomad4 FIN exome
AF:
0.650
GnomAD4 genome
AF:
0.416
AC:
63302
AN:
152088
Hom.:
13862
Cov.:
32
AF XY:
0.423
AC XY:
31453
AN XY:
74324
show subpopulations
Gnomad4 AFR
AF:
0.288
Gnomad4 AMR
AF:
0.369
Gnomad4 ASJ
AF:
0.436
Gnomad4 EAS
AF:
0.494
Gnomad4 SAS
AF:
0.479
Gnomad4 FIN
AF:
0.603
Gnomad4 NFE
AF:
0.464
Gnomad4 OTH
AF:
0.405
Alfa
AF:
0.448
Hom.:
25075
Bravo
AF:
0.390
Asia WGS
AF:
0.454
AC:
1579
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.84
CADD
Benign
3.7
DANN
Benign
0.60

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: rs1059751; hg19: chr13-95672950; API