rs2372479

Positions:

• chr2-215077767-T-G

Variant summary

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

The NM_173076.3(ABCA12):​c.164-13548A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.473 in 152,142 control chromosomes in the GnomAD database, including 19,628 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 0.47 (19628 hom., cov: 33)
• Consequence: ABCA12 NM_173076.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.160

Genes affected

ABCA12 (HGNC:14637): (ATP binding cassette subfamily A member 12) The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.608 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ABCA12	NM_173076.3	c.164-13548A>C		intron_variant		ENST00000272895.12
ABCA12	XM_011510951.3	c.164-13548A>C		intron_variant
ABCA12	NR_103740.2	n.582-13548A>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ABCA12	ENST00000272895.12	c.164-13548A>C		intron_variant		1	NM_173076.3	P1
	ENST00000628464.2	n.1022-3000T>G		intron_variant, non_coding_transcript_variant		5
ABCA12	ENST00000412081.1	c.164-2150A>C		intron_variant		2
	ENST00000626771.1	n.339-3000T>G		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.473 AC: 71982 AN: 152026 Hom.: 19605 Cov.: 33

Gnomad AFR AF: 0.196

Gnomad AMI AF: 0.712

Gnomad AMR AF: 0.553

Gnomad ASJ AF: 0.550

Gnomad EAS AF: 0.266

Gnomad SAS AF: 0.625

Gnomad FIN AF: 0.606

Gnomad MID AF: 0.456

Gnomad NFE AF: 0.602

Gnomad OTH AF: 0.468

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

GnomAD4 genome AF: 0.473 AC: 72032 AN: 152142 Hom.: 19628 Cov.: 33 AF XY: 0.478 AC XY: 35536 AN XY: 74386

Gnomad4 AFR AF: 0.196

Gnomad4 AMR AF: 0.554

Gnomad4 ASJ AF: 0.550

Gnomad4 EAS AF: 0.266

Gnomad4 SAS AF: 0.627

Gnomad4 FIN AF: 0.606

Gnomad4 NFE AF: 0.602

Gnomad4 OTH AF: 0.471

Alfa AF: 0.565 Hom.: 10895

Bravo AF: 0.451

Asia WGS AF: 0.423 AC: 1472 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	1.8
DANN	Benign	0.53

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: rs2372479; hg19: chr2-215942490;