rs508384

Variant names:

• chr10-100365004-C-A
• rs508384
• NM_005063.5:c.*4071C>A

Your query was ambiguous. Multiple possible variants found:

• chr10-100365004-C-A
• chr10-100365004-C-T

Variant summary

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

The NM_005063.5(SCD):​c.*4071C>A variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.243 in 151,880 control chromosomes in the GnomAD database, including 5,353 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 0.24 (5353 hom., cov: 31)
• Consequence: SCD NM_005063.5 downstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.340
• Publications: 18 publications found

Genes affected

SCD (HGNC:10571): (stearoyl-CoA desaturase) This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]

SCD Gene-Disease associations (from GenCC):

• adrenoleukodystrophy

  Inheritance: AR Classification: LIMITED Submitted by: PanelApp Australia

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.68).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.39 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_005063.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SCD	NM_005063.5	MANE Select	c.*4071C>A		downstream_gene	N/A	NP_005054.3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SCD	ENST00000370355.3	TSL:1 MANE Select	c.*4071C>A		downstream_gene	N/A	ENSP00000359380.2	O00767
	SCD	ENST00000884321.1		c.*4071C>A		downstream_gene	N/A	ENSP00000554380.1
	SCD	ENST00000884322.1		c.*4071C>A		downstream_gene	N/A	ENSP00000554381.1

Frequencies

GnomAD3 genomes AF: 0.242 AC: 36761 AN: 151762 Hom.: 5317 Cov.: 31

Gnomad AFR AF: 0.394

Gnomad AMI AF: 0.117

Gnomad AMR AF: 0.160

Gnomad ASJ AF: 0.217

Gnomad EAS AF: 0.232

Gnomad SAS AF: 0.319

Gnomad FIN AF: 0.182

Gnomad MID AF: 0.247

Gnomad NFE AF: 0.177

Gnomad OTH AF: 0.213

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

GnomAD4 genome AF: 0.243 AC: 36839 AN: 151880 Hom.: 5353 Cov.: 31 AF XY: 0.243 AC XY: 18035 AN XY: 74240

African (AFR) AF: 0.396 AC: 16360 AN: 41358

American (AMR) AF: 0.160 AC: 2438 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.217 AC: 753 AN: 3466

East Asian (EAS) AF: 0.231 AC: 1194 AN: 5164

South Asian (SAS) AF: 0.318 AC: 1528 AN: 4804

European-Finnish (FIN) AF: 0.182 AC: 1917 AN: 10552

Middle Eastern (MID) AF: 0.252 AC: 74 AN: 294

European-Non Finnish (NFE) AF: 0.177 AC: 12015 AN: 67954

Other (OTH) AF: 0.214 AC: 453 AN: 2114

Alfa AF: 0.183 Hom.: 3775

Bravo AF: 0.244

Asia WGS AF: 0.296 AC: 1029 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.68
CADD	Benign	7.4
DANN	Benign	0.77
PhyloP100		0.34

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs508384; hg19: chr10-102124761;