7-20759446-G-T

Variant summary

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

The ENST00000441315.1(ABCB5):​n.931-3810G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0196 in 152,216 control chromosomes in the GnomAD database, including 213 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 0.020 ( 213 hom., cov: 32)

Consequence

ABCB5
ENST00000441315.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.653
Variant links:
Genes affected
ABCB5 (HGNC:46): (ATP binding cassette subfamily B member 5) ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.223 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ABCB5ENST00000441315.1 linkn.931-3810G>T intron_variant Intron 6 of 7 2 ENSP00000398692.1 H7C165

Frequencies

GnomAD3 genomes
AF:
0.0196
AC:
2975
AN:
152098
Hom.:
210
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.00237
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.0593
Gnomad ASJ
AF:
0.00864
Gnomad EAS
AF:
0.235
Gnomad SAS
AF:
0.0344
Gnomad FIN
AF:
0.0151
Gnomad MID
AF:
0.0190
Gnomad NFE
AF:
0.00513
Gnomad OTH
AF:
0.0206
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0196
AC:
2988
AN:
152216
Hom.:
213
Cov.:
32
AF XY:
0.0223
AC XY:
1657
AN XY:
74430
show subpopulations
Gnomad4 AFR
AF:
0.00236
Gnomad4 AMR
AF:
0.0596
Gnomad4 ASJ
AF:
0.00864
Gnomad4 EAS
AF:
0.234
Gnomad4 SAS
AF:
0.0347
Gnomad4 FIN
AF:
0.0151
Gnomad4 NFE
AF:
0.00513
Gnomad4 OTH
AF:
0.0251
Alfa
AF:
0.0117
Hom.:
12
Bravo
AF:
0.0227
Asia WGS
AF:
0.139
AC:
480
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.91
CADD
Benign
4.5
DANN
Benign
0.40

Splicing

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: rs17143334; hg19: chr7-20799069; API