chr7-48281842-C-G

Position:

• chr7-48281842-C-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BS1 BS2

The NM_152701.5(ABCA13):​c.8836+390C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0143 in 152,260 control chromosomes in the GnomAD database, including 20 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 0.014 (20 hom., cov: 32)
• Consequence: ABCA13 NM_152701.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02

Genes affected

ABCA13 (HGNC:14638): (ATP binding cassette subfamily A member 13) In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]

ABCA13 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BS1: Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0143 (2181/152260) while in subpopulation AFR AF= 0.0292 (1213/41552). AF 95% confidence interval is 0.0278. There are 20 homozygotes in gnomad4. There are 1064 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd4 at 20 AR gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ABCA13	NM_152701.5	c.8836+390C>G		intron_variant		ENST00000435803.6	NP_689914.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ABCA13	ENST00000435803.6	c.8836+390C>G		intron_variant		1	NM_152701.5	ENSP00000411096.1
ABCA13	ENST00000544596.5	c.754+390C>G		intron_variant		1		ENSP00000442634.2
ABCA13	ENST00000611776.4	n.755+390C>G		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.0143 AC: 2182 AN: 152142 Hom.: 20 Cov.: 32

Gnomad AFR AF: 0.0292

Gnomad AMI AF: 0.0143

Gnomad AMR AF: 0.0151

Gnomad ASJ AF: 0.0112

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00581

Gnomad FIN AF: 0.00425

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.00835

Gnomad OTH AF: 0.0143

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

GnomAD4 genome AF: 0.0143 AC: 2181 AN: 152260 Hom.: 20 Cov.: 32 AF XY: 0.0143 AC XY: 1064 AN XY: 74446

Gnomad4 AFR AF: 0.0292

Gnomad4 AMR AF: 0.0150

Gnomad4 ASJ AF: 0.0112

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00561

Gnomad4 FIN AF: 0.00425

Gnomad4 NFE AF: 0.00835

Gnomad4 OTH AF: 0.0142

Alfa AF: 0.00103 Hom.: 0

Bravo AF: 0.0163

Asia WGS AF: 0.00491 AC: 17 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.033
DANN	Benign	0.39

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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: rs10499675; hg19: chr7-48321439;