NM_001163941.2:c.2868-4611G>C

Variant names:

• chr7-20734372-G-C
• rs6960186
• NM_001163941.2:c.2868-4611G>C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001163941.2(ABCB5):​c.2868-4611G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.311 in 149,740 control chromosomes in the GnomAD database, including 7,513 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 0.31 (7513 hom., cov: 28)
• Consequence: ABCB5 NM_001163941.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.95
• Publications: 4 publications found

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

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.337 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001163941.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ABCB5	NM_001163941.2	MANE Select	c.2868-4611G>C		intron	N/A	NP_001157413.1
	ABCB5	NM_178559.6		c.1533-4611G>C		intron	N/A	NP_848654.3

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ABCB5	ENST00000404938.7	TSL:1 MANE Select	c.2868-4611G>C		intron	N/A	ENSP00000384881.2
	ABCB5	ENST00000258738.10	TSL:1	c.1533-4611G>C		intron	N/A	ENSP00000258738.6
	ABCB5	ENST00000441315.1	TSL:2	n.369-4611G>C		intron	N/A	ENSP00000398692.1

Frequencies

GnomAD3 genomes AF: 0.311 AC: 46540 AN: 149622 Hom.: 7508 Cov.: 28

Gnomad AFR AF: 0.273

Gnomad AMI AF: 0.326

Gnomad AMR AF: 0.250

Gnomad ASJ AF: 0.260

Gnomad EAS AF: 0.230

Gnomad SAS AF: 0.225

Gnomad FIN AF: 0.452

Gnomad MID AF: 0.292

Gnomad NFE AF: 0.341

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.311 AC: 46565 AN: 149740 Hom.: 7513 Cov.: 28 AF XY: 0.311 AC XY: 22667 AN XY: 72912

African (AFR) AF: 0.273 AC: 11090 AN: 40616

American (AMR) AF: 0.250 AC: 3709 AN: 14850

Ashkenazi Jewish (ASJ) AF: 0.260 AC: 899 AN: 3454

East Asian (EAS) AF: 0.231 AC: 1173 AN: 5084

South Asian (SAS) AF: 0.225 AC: 1053 AN: 4678

European-Finnish (FIN) AF: 0.452 AC: 4613 AN: 10212

Middle Eastern (MID) AF: 0.279 AC: 81 AN: 290

European-Non Finnish (NFE) AF: 0.341 AC: 23026 AN: 67598

Other (OTH) AF: 0.305 AC: 626 AN: 2052

Alfa AF: 0.337 Hom.: 1123

Bravo AF: 0.300

Asia WGS AF: 0.241 AC: 840 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.053
DANN	Benign	0.39
PhyloP100		-4.0
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs6960186; hg19: chr7-20773995;