8-27882900-C-T

Position:

• chr8-27882900-C-T

Variant summary

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

The NM_173833.6(SCARA5):​c.1154-3134G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.513 in 152,050 control chromosomes in the GnomAD database, including 20,191 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 0.51 (20191 hom., cov: 33)
• Consequence: SCARA5 NM_173833.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.304

Genes affected

SCARA5 (HGNC:28701): (scavenger receptor class A member 5) Predicted to enable ferritin receptor activity. Predicted to be involved in several processes, including cellular iron ion homeostasis; iron ion transmembrane transport; and protein homotrimerization. Predicted to act upstream of or within cellular response to heat. Predicted to be located in cell surface. Predicted to be integral component of plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.612 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SCARA5	NM_173833.6	c.1154-3134G>A		intron_variant		ENST00000354914.8	NP_776194.2
SCARA5	NM_001413201.1	c.1025-3134G>A		intron_variant			NP_001400130.1
SCARA5	NM_001413203.1	c.350-3134G>A		intron_variant			NP_001400132.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SCARA5	ENST00000354914.8	c.1154-3134G>A		intron_variant		2	NM_173833.6	ENSP00000346990.3
SCARA5	ENST00000380385.6	c.479-3134G>A		intron_variant		1		ENSP00000369746.2

Frequencies

GnomAD3 genomes AF: 0.513 AC: 77878 AN: 151932 Hom.: 20171 Cov.: 33

Gnomad AFR AF: 0.547

Gnomad AMI AF: 0.419

Gnomad AMR AF: 0.548

Gnomad ASJ AF: 0.389

Gnomad EAS AF: 0.630

Gnomad SAS AF: 0.476

Gnomad FIN AF: 0.447

Gnomad MID AF: 0.389

Gnomad NFE AF: 0.497

Gnomad OTH AF: 0.481

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

GnomAD4 genome AF: 0.513 AC: 77940 AN: 152050 Hom.: 20191 Cov.: 33 AF XY: 0.509 AC XY: 37856 AN XY: 74304

Gnomad4 AFR AF: 0.546

Gnomad4 AMR AF: 0.548

Gnomad4 ASJ AF: 0.389

Gnomad4 EAS AF: 0.630

Gnomad4 SAS AF: 0.476

Gnomad4 FIN AF: 0.447

Gnomad4 NFE AF: 0.497

Gnomad4 OTH AF: 0.482

Alfa AF: 0.493 Hom.: 28058

Bravo AF: 0.523

Asia WGS AF: 0.519 AC: 1804 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	1.9
DANN	Benign	0.55

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: rs11774576; hg19: chr8-27740417;