rs17816709

chr7-20652237-C-Achr7-20652237-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001163941.2(ABCB5):c.1536+614C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.157 in 152,024 control chromosomes in the GnomAD database, including 2,307 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 0.16 (2307 hom., cov: 32)
• Consequence: ABCB5 NM_001163941.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.43

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]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.205 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ABCB5	NM_001163941.2	c.1536+614C>A		intron_variant		ENST00000404938.7
ABCB5	NM_001163942.2	c.201+614C>A		intron_variant
ABCB5	NM_001163993.3	c.201+614C>A		intron_variant
ABCB5	NM_178559.6	c.201+614C>A		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ABCB5	ENST00000404938.7	c.1536+614C>A		intron_variant		1	NM_001163941.2	P1
ABCB5	ENST00000258738.10	c.201+614C>A		intron_variant		1
ABCB5	ENST00000443026.6	c.201+614C>A		intron_variant		1
ABCB5	ENST00000406935.5	c.201+614C>A		intron_variant		2

Frequencies

GnomAD3 genomes AF: 0.158 AC: 23932 AN: 151906 Hom.: 2305 Cov.: 32

Gnomad AFR AF: 0.0549

Gnomad AMI AF: 0.183

Gnomad AMR AF: 0.127

Gnomad ASJ AF: 0.216

Gnomad EAS AF: 0.0362

Gnomad SAS AF: 0.193

Gnomad FIN AF: 0.303

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.208

Gnomad OTH AF: 0.148

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.157 AC: 23935 AN: 152024 Hom.: 2307 Cov.: 32 AF XY: 0.162 AC XY: 12000 AN XY: 74278

Gnomad4 AFR AF: 0.0549

Gnomad4 AMR AF: 0.127

Gnomad4 ASJ AF: 0.216

Gnomad4 EAS AF: 0.0353

Gnomad4 SAS AF: 0.193

Gnomad4 FIN AF: 0.303

Gnomad4 NFE AF: 0.208

Gnomad4 OTH AF: 0.148

Alfa AF: 0.151 Hom.: 521

Bravo AF: 0.138

Asia WGS AF: 0.0960 AC: 332 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	0.086
Dann	Benign	0.57

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

Other links and lift over

dbSNP: rs17816709; hg19: chr7-20691860;